nstd173 (Zarrei et al. 2019)
- Organism:
- Human
- Study Type:
- Case-Control
- Submitter:
- Jeff MacDonald
- Description:
- Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to identify shared etiology among NDDs, but this is the first genome-wide CNV analysis across autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), schizophrenia (SCZ), and obsessive-compulsive disorder (OCD) at once. Using microarray (Affymetrix CytoScan HD), we genotyped 2,691 subjects diagnosed with an NDD (204 SCZ, 1,838 ASD, 427 ADHD and 222 OCD) and 1,769 family members, mainly parents, from the province of Ontario, Canada. We identified rare CNVs, defined as those found in less than 0.1% of 10,851 population control samples. We found clinically relevant CNVs (broadly defined) in 284 (10.5%) of total subjects including 22 (10.8%) among subjects with SCZ, 209 (11.4%) with ASD, 40 (9.4%) with ADHD, and 13 (5.6%) with OCD. Among all NDD subjects, we identified 17 (0.63%) with aneuploidies and 115 (4.3%) with known genomic disorder variants. We searched further for genes impacted by different CNVs in multiple disorders. Examples of NDD-associated genes linked across more than one disorder (listed in order of occurrence) are NRXN1, SEH1L, LDLRAD4, GNAL, GNG13, MKRN1, DCTN2, KNDC1, PCMTD2, KIF5A, SYNM, and long non-coding RNAs: AK127244, NRON, and PTCHD1-AS. We demonstrated that identical CNVs or genes could potentially contribute to the etiology of multiple NDDs. The CNVs identified will serve as a useful resource for both research and diagnostic laboratories for prioritization of variants and clinical interpretations. See Variant Summary counts for nstd173 in dbVar Variant Summary.
- Publication(s):
- Zarrei et al. 2019
Detailed Information: Download 23548 Variant Regions, Download 91394 Variant Calls, Download Both, FTP
Variant Summary
Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37 (hg19)
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.11 | Chr1 | 1,351 | 7,097 | Remapped | NC_000001.11 |
| NC_000002.12 | Chr2 | 1,227 | 6,077 | Remapped | NC_000002.12 |
| NC_000003.12 | Chr3 | 1,004 | 3,584 | Remapped | NC_000003.12 |
| NC_000004.12 | Chr4 | 1,106 | 4,683 | Remapped | NC_000004.12 |
| NC_000005.10 | Chr5 | 1,121 | 5,220 | Remapped | NC_000005.10 |
| NC_000006.12 | Chr6 | 1,566 | 6,783 | Remapped | NC_000006.12 |
| NC_000007.14 | Chr7 | 1,658 | 5,227 | Remapped | NC_000007.14 |
| NC_000008.11 | Chr8 | 859 | 3,862 | Remapped | NC_000008.11 |
| NC_000009.12 | Chr9 | 613 | 900 | Remapped | NC_000009.12 |
| NC_000010.11 | Chr10 | 987 | 2,258 | Remapped | NC_000010.11 |
| NC_000011.10 | Chr11 | 1,129 | 7,942 | Remapped | NC_000011.10 |
| NC_000012.12 | Chr12 | 846 | 4,389 | Remapped | NC_000012.12 |
| NC_000013.11 | Chr13 | 550 | 1,943 | Remapped | NC_000013.11 |
| NC_000014.9 | Chr14 | 2,641 | 8,712 | Remapped | NC_000014.9 |
| NC_000015.10 | Chr15 | 647 | 970 | Remapped | NC_000015.10 |
| NC_000016.10 | Chr16 | 1,124 | 3,568 | Remapped | NC_000016.10 |
| NC_000017.11 | Chr17 | 680 | 3,464 | Remapped | NC_000017.11 |
| NC_000018.10 | Chr18 | 217 | 362 | Remapped | NC_000018.10 |
| NC_000019.10 | Chr19 | 693 | 2,492 | Remapped | NC_000019.10 |
| NC_000020.11 | Chr20 | 364 | 2,665 | Remapped | NC_000020.11 |
| NC_000021.9 | Chr21 | 161 | 252 | Remapped | NC_000021.9 |
| NC_000022.11 | Chr22 | 419 | 1,251 | Remapped | NC_000022.11 |
| NC_000023.11 | ChrX | 1,538 | 2,925 | Remapped | NC_000023.11 |
| NC_000024.10 | ChrY | 639 | 884 | Remapped | NC_000024.10 |
| NT_187515.1 | Chr1|NT_187515.1 | 3 | 3 | Remapped | NT_187515.1 |
| NT_187516.1 | Chr1|NT_187516.1 | 9 | 124 | Remapped | NT_187516.1 |
| NT_187518.1 | Chr1|NT_187518.1 | 23 | 47 | Remapped | NT_187518.1 |
| NT_187519.1 | Chr1|NT_187519.1 | 5 | 5 | Remapped | NT_187519.1 |
| NT_187646.1 | Chr1|NT_187646.1 | 22 | 46 | Remapped | NT_187646.1 |
| NW_011332687.1 | Chr1|NW_011332687.1 | 2 | 2 | Remapped | NW_011332687.1 |
| NW_011332688.1 | Chr1|NW_011332688.1 | 21 | 39 | Remapped | NW_011332688.1 |
| NW_014040927.1 | Chr1|NW_014040927.1 | 1 | 1 | Remapped | NW_014040927.1 |
| NW_017852928.1 | Chr1|NW_017852928.1 | 13 | 25 | Remapped | NW_017852928.1 |
| NW_018654707.1 | Chr1|NW_018654707.1 | 104 | 2,715 | Remapped | NW_018654707.1 |
| NW_018654708.1 | Chr1|NW_018654708.1 | 1 | 1 | Remapped | NW_018654708.1 |
| NT_187522.1 | Chr2|NT_187522.1 | 1 | 1 | Remapped | NT_187522.1 |
| NT_187525.1 | Chr2|NT_187525.1 | 4 | 4 | Remapped | NT_187525.1 |
| NT_187529.1 | Chr2|NT_187529.1 | 1 | 1 | Remapped | NT_187529.1 |
| NW_011332690.1 | Chr2|NW_011332690.1 | 1 | 1 | Remapped | NW_011332690.1 |
| NT_187678.1 | Chr3|NT_187678.1 | 9 | 10 | Remapped | NT_187678.1 |
| NT_187688.1 | Chr3|NT_187688.1 | 9 | 10 | Remapped | NT_187688.1 |
| NT_187689.1 | Chr3|NT_187689.1 | 10 | 11 | Remapped | NT_187689.1 |
| NT_187690.1 | Chr3|NT_187690.1 | 9 | 10 | Remapped | NT_187690.1 |
| NT_187691.1 | Chr3|NT_187691.1 | 9 | 10 | Remapped | NT_187691.1 |
| NT_187532.1 | Chr3|NT_187532.1 | 10 | 11 | Remapped | NT_187532.1 |
| NT_187533.1 | Chr3|NT_187533.1 | 2 | 3 | Remapped | NT_187533.1 |
| NT_187534.1 | Chr3|NT_187534.1 | 3 | 3 | Remapped | NT_187534.1 |
| NT_187536.1 | Chr3|NT_187536.1 | 1 | 1 | Remapped | NT_187536.1 |
| NT_187537.1 | Chr3|NT_187537.1 | 2 | 3 | Remapped | NT_187537.1 |
| NT_187538.1 | Chr3|NT_187538.1 | 1 | 1 | Remapped | NT_187538.1 |
| NT_187539.1 | Chr3|NT_187539.1 | 11 | 21 | Remapped | NT_187539.1 |
| NT_187649.1 | Chr3|NT_187649.1 | 9 | 10 | Remapped | NT_187649.1 |
| NW_003315913.1 | Chr3|NW_003315913.1 | 2 | 2 | Remapped | NW_003315913.1 |
| NW_009646198.1 | Chr3|NW_009646198.1 | 4 | 5 | Remapped | NW_009646198.1 |
| NW_012132916.1 | Chr3|NW_012132916.1 | 2 | 2 | Remapped | NW_012132916.1 |
| NW_017363813.1 | Chr3|NW_017363813.1 | 1 | 1 | Remapped | NW_017363813.1 |
| NW_018654711.1 | Chr3|NW_018654711.1 | 9 | 17 | Remapped | NW_018654711.1 |
| NW_019805488.1 | Chr3|NW_019805488.1 | 15 | 99 | Remapped | NW_019805488.1 |
| NT_187679.1 | Chr4|NT_187679.1 | 8 | 8 | Remapped | NT_187679.1 |
| NT_187540.1 | Chr4|NT_187540.1 | 3 | 3 | Remapped | NT_187540.1 |
| NT_187541.1 | Chr4|NT_187541.1 | 2 | 3 | Remapped | NT_187541.1 |
| NT_187543.1 | Chr4|NT_187543.1 | 6 | 6 | Remapped | NT_187543.1 |
| NT_187650.1 | Chr4|NT_187650.1 | 6 | 6 | Remapped | NT_187650.1 |
| NW_003315915.1 | Chr4|NW_003315915.1 | 24 | 566 | Remapped | NW_003315915.1 |
| NW_017363814.1 | Chr4|NW_017363814.1 | 3 | 3 | Remapped | NW_017363814.1 |
| NT_187546.1 | Chr5|NT_187546.1 | 17 | 24 | Remapped | NT_187546.1 |
| NT_187547.1 | Chr5|NT_187547.1 | 3 | 3 | Remapped | NT_187547.1 |
| NT_187550.1 | Chr5|NT_187550.1 | 11 | 11 | Remapped | NT_187550.1 |
| NT_187651.1 | Chr5|NT_187651.1 | 8 | 8 | Remapped | NT_187651.1 |
| NT_187652.1 | Chr5|NT_187652.1 | 17 | 24 | Remapped | NT_187652.1 |
| NW_003315917.2 | Chr5|NW_003315917.2 | 9 | 9 | Remapped | NW_003315917.2 |
| NW_003315920.1 | Chr5|NW_003315920.1 | 6 | 13 | Remapped | NW_003315920.1 |
| NW_003571036.1 | Chr5|NW_003571036.1 | 5 | 6 | Remapped | NW_003571036.1 |
| NW_016107297.1 | Chr5|NW_016107297.1 | 2 | 2 | Remapped | NW_016107297.1 |
| NW_016107298.1 | Chr5|NW_016107298.1 | 5 | 5 | Remapped | NW_016107298.1 |
| NT_187553.1 | Chr6|NT_187553.1 | 6 | 7 | Remapped | NT_187553.1 |
| NT_187555.1 | Chr6|NT_187555.1 | 1 | 1 | Remapped | NT_187555.1 |
| NT_187556.1 | Chr6|NT_187556.1 | 9 | 15 | Remapped | NT_187556.1 |
| NT_187557.1 | Chr6|NT_187557.1 | 2 | 2 | Remapped | NT_187557.1 |
| NW_009646200.1 | Chr6|NW_009646200.1 | 2 | 2 | Remapped | NW_009646200.1 |
| NW_018654713.1 | Chr6|NW_018654713.1 | 4 | 18 | Remapped | NW_018654713.1 |
| NT_187558.1 | Chr7|NT_187558.1 | 24 | 275 | Remapped | NT_187558.1 |
| NT_187559.1 | Chr7|NT_187559.1 | 4 | 4 | Remapped | NT_187559.1 |
| NT_187560.1 | Chr7|NT_187560.1 | 1 | 1 | Remapped | NT_187560.1 |
| NT_187562.1 | Chr7|NT_187562.1 | 295 | 1,162 | Remapped | NT_187562.1 |
| NT_187563.1 | Chr7|NT_187563.1 | 1 | 1 | Remapped | NT_187563.1 |
| NT_187653.1 | Chr7|NT_187653.1 | 24 | 275 | Remapped | NT_187653.1 |
| NW_012132919.1 | Chr7|NW_012132919.1 | 2 | 2 | Remapped | NW_012132919.1 |
| NW_017852929.1 | Chr7|NW_017852929.1 | 3 | 4 | Remapped | NW_017852929.1 |
| NW_017852930.1 | Chr7|NW_017852930.1 | 1 | 1 | Remapped | NW_017852930.1 |
| NW_018654714.1 | Chr7|NW_018654714.1 | 3 | 3 | Remapped | NW_018654714.1 |
| NW_019805493.1 | Chr7|NW_019805493.1 | 7 | 9 | Remapped | NW_019805493.1 |
| NT_187680.1 | Chr8|NT_187680.1 | 13 | 34 | Remapped | NT_187680.1 |
| NT_187565.1 | Chr8|NT_187565.1 | 3 | 3 | Remapped | NT_187565.1 |
| NT_187567.1 | Chr8|NT_187567.1 | 1 | 2 | Remapped | NT_187567.1 |
| NT_187568.1 | Chr8|NT_187568.1 | 2 | 3 | Remapped | NT_187568.1 |
| NT_187571.1 | Chr8|NT_187571.1 | 1 | 1 | Remapped | NT_187571.1 |
| NT_187576.1 | Chr8|NT_187576.1 | 46 | 77 | Remapped | NT_187576.1 |
| NT_187577.1 | Chr8|NT_187577.1 | 2 | 2 | Remapped | NT_187577.1 |
| NT_187654.1 | Chr8|NT_187654.1 | 3 | 3 | Remapped | NT_187654.1 |
| NT_187655.1 | Chr8|NT_187655.1 | 3 | 3 | Remapped | NT_187655.1 |
| NW_018654717.1 | Chr8|NW_018654717.1 | 67 | 91 | Remapped | NW_018654717.1 |
| NW_019805494.1 | Chr8|NW_019805494.1 | 3 | 3 | Remapped | NW_019805494.1 |
| NW_003315928.1 | Chr9|NW_003315928.1 | 2 | 2 | Remapped | NW_003315928.1 |
| NW_003315934.1 | Chr10|NW_003315934.1 | 18 | 51 | Remapped | NW_003315934.1 |
| NW_003315935.1 | Chr10|NW_003315935.1 | 1 | 1 | Remapped | NW_003315935.1 |
| NW_009646202.1 | Chr10|NW_009646202.1 | 1 | 2 | Remapped | NW_009646202.1 |
| NW_013171806.1 | Chr10|NW_013171806.1 | 2 | 2 | Remapped | NW_013171806.1 |
| NW_013171807.1 | Chr10|NW_013171807.1 | 4 | 4 | Remapped | NW_013171807.1 |
| NT_187581.1 | Chr11|NT_187581.1 | 8 | 9 | Remapped | NT_187581.1 |
| NT_187583.1 | Chr11|NT_187583.1 | 23 | 159 | Remapped | NT_187583.1 |
| NT_187586.1 | Chr11|NT_187586.1 | 1 | 1 | Remapped | NT_187586.1 |
| NW_003315936.1 | Chr11|NW_003315936.1 | 4 | 5 | Remapped | NW_003315936.1 |
| NW_011332695.1 | Chr11|NW_011332695.1 | 23 | 159 | Remapped | NW_011332695.1 |
| NW_019805495.1 | Chr11|NW_019805495.1 | 89 | 412 | Remapped | NW_019805495.1 |
| NW_019805496.1 | Chr11|NW_019805496.1 | 1 | 1 | Remapped | NW_019805496.1 |
| NW_019805497.1 | Chr11|NW_019805497.1 | 1 | 1 | Remapped | NW_019805497.1 |
| NT_187658.1 | Chr12|NT_187658.1 | 36 | 350 | Remapped | NT_187658.1 |
| NT_187587.1 | Chr12|NT_187587.1 | 64 | 305 | Remapped | NT_187587.1 |
| NT_187588.1 | Chr12|NT_187588.1 | 1 | 1 | Remapped | NT_187588.1 |
| NW_003315940.1 | Chr12|NW_003315940.1 | 1 | 1 | Remapped | NW_003315940.1 |
| NW_003571049.1 | Chr12|NW_003571049.1 | 1 | 1 | Remapped | NW_003571049.1 |
| NW_003571050.1 | Chr12|NW_003571050.1 | 6 | 6 | Remapped | NW_003571050.1 |
| NW_015148967.1 | Chr12|NW_015148967.1 | 5 | 5 | Remapped | NW_015148967.1 |
| NW_018654718.1 | Chr12|NW_018654718.1 | 38 | 318 | Remapped | NW_018654718.1 |
| NW_018654720.1 | Chr12|NW_018654720.1 | 1 | 1 | Remapped | NW_018654720.1 |
| NW_019805499.1 | Chr12|NW_019805499.1 | 1 | 1 | Remapped | NW_019805499.1 |
| NT_187592.1 | Chr13|NT_187592.1 | 1 | 1 | Remapped | NT_187592.1 |
| NT_187593.1 | Chr13|NT_187593.1 | 2 | 4 | Remapped | NT_187593.1 |
| NT_187597.1 | Chr13|NT_187597.1 | 2 | 2 | Remapped | NT_187597.1 |
| NT_187599.1 | Chr14|NT_187599.1 | 1 | 1 | Remapped | NT_187599.1 |
| NT_187600.1 | Chr14|NT_187600.1 | 391 | 1,726 | Remapped | NT_187600.1 |
| NT_187601.1 | Chr14|NT_187601.1 | 2 | 3 | Remapped | NT_187601.1 |
| NW_018654722.1 | Chr14|NW_018654722.1 | 25 | 121 | Remapped | NW_018654722.1 |
| NT_187660.1 | Chr15|NT_187660.1 | 56 | 71 | Remapped | NT_187660.1 |
| NT_187603.1 | Chr15|NT_187603.1 | 3 | 8 | Remapped | NT_187603.1 |
| NT_187605.1 | Chr15|NT_187605.1 | 9 | 10 | Remapped | NT_187605.1 |
| NW_003315943.1 | Chr15|NW_003315943.1 | 4 | 5 | Remapped | NW_003315943.1 |
| NW_003315944.2 | Chr15|NW_003315944.2 | 2 | 2 | Remapped | NW_003315944.2 |
| NW_011332701.1 | Chr15|NW_011332701.1 | 60 | 75 | Remapped | NW_011332701.1 |
| NT_187607.1 | Chr16|NT_187607.1 | 61 | 63 | Remapped | NT_187607.1 |
| NT_187609.1 | Chr16|NT_187609.1 | 1 | 1 | Remapped | NT_187609.1 |
| NW_003315945.1 | Chr16|NW_003315945.1 | 3 | 20 | Remapped | NW_003315945.1 |
| NW_003315946.1 | Chr16|NW_003315946.1 | 1 | 1 | Remapped | NW_003315946.1 |
| NW_012132921.1 | Chr16|NW_012132921.1 | 4 | 8 | Remapped | NW_012132921.1 |
| NW_013171813.1 | Chr16|NW_013171813.1 | 2 | 2 | Remapped | NW_013171813.1 |
| NW_017852933.1 | Chr16|NW_017852933.1 | 28 | 46 | Remapped | NW_017852933.1 |
| NW_018654723.1 | Chr16|NW_018654723.1 | 1 | 1 | Remapped | NW_018654723.1 |
| NW_019805500.1 | Chr16|NW_019805500.1 | 1 | 1 | Remapped | NW_019805500.1 |
| NT_187661.1 | Chr17|NT_187661.1 | 37 | 1,219 | Remapped | NT_187661.1 |
| NT_187662.1 | Chr17|NT_187662.1 | 2 | 2 | Remapped | NT_187662.1 |
| NT_187663.1 | Chr17|NT_187663.1 | 259 | 1,669 | Remapped | NT_187663.1 |
| NT_187611.1 | Chr17|NT_187611.1 | 1 | 1 | Remapped | NT_187611.1 |
| NT_187612.1 | Chr17|NT_187612.1 | 6 | 6 | Remapped | NT_187612.1 |
| NT_187613.1 | Chr17|NT_187613.1 | 7 | 9 | Remapped | NT_187613.1 |
| NT_187614.1 | Chr17|NT_187614.1 | 138 | 1,582 | Remapped | NT_187614.1 |
| NT_187616.1 | Chr17|NT_187616.1 | 1 | 1 | Remapped | NT_187616.1 |
| NW_003315952.3 | Chr17|NW_003315952.3 | 5 | 5 | Remapped | NW_003315952.3 |
| NW_003315953.2 | Chr17|NW_003315953.2 | 1 | 1 | Remapped | NW_003315953.2 |
| NW_003871091.1 | Chr17|NW_003871091.1 | 12 | 23 | Remapped | NW_003871091.1 |
| NW_019805501.1 | Chr17|NW_019805501.1 | 1 | 1 | Remapped | NW_019805501.1 |
| NW_013171814.1 | Chr18|NW_013171814.1 | 1 | 1 | Remapped | NW_013171814.1 |
| NW_018654724.1 | Chr18|NW_018654724.1 | 3 | 3 | Remapped | NW_018654724.1 |
| NW_019805503.1 | Chr18|NW_019805503.1 | 6 | 22 | Remapped | NW_019805503.1 |
| NT_187693.1 | Chr19|NT_187693.1 | 156 | 507 | Remapped | NT_187693.1 |
| NW_003571061.2 | Chr19|NW_003571061.2 | 34 | 117 | Remapped | NW_003571061.2 |
| NW_003571057.2 | Chr19|NW_003571057.2 | 5 | 6 | Remapped | NW_003571057.2 |
| NW_003571058.2 | Chr19|NW_003571058.2 | 5 | 6 | Remapped | NW_003571058.2 |
| NW_003571059.2 | Chr19|NW_003571059.2 | 5 | 6 | Remapped | NW_003571059.2 |
| NW_003571060.1 | Chr19|NW_003571060.1 | 47 | 305 | Remapped | NW_003571060.1 |
| NW_003571056.2 | Chr19|NW_003571056.2 | 5 | 6 | Remapped | NW_003571056.2 |
| NW_003571055.2 | Chr19|NW_003571055.2 | 7 | 9 | Remapped | NW_003571055.2 |
| NW_003315962.1 | Chr19|NW_003315962.1 | 18 | 34 | Remapped | NW_003315962.1 |
| NW_003315965.1 | Chr19|NW_003315965.1 | 4 | 4 | Remapped | NW_003315965.1 |
| NW_003571054.1 | Chr19|NW_003571054.1 | 47 | 307 | Remapped | NW_003571054.1 |
| NW_009646206.1 | Chr19|NW_009646206.1 | 1 | 1 | Remapped | NW_009646206.1 |
| NW_014040929.1 | Chr19|NW_014040929.1 | 1 | 1 | Remapped | NW_014040929.1 |
| NT_187624.1 | Chr20|NT_187624.1 | 3 | 8 | Remapped | NT_187624.1 |
| NT_187626.1 | Chr21|NT_187626.1 | 2 | 2 | Remapped | NT_187626.1 |
| NT_187628.1 | Chr21|NT_187628.1 | 1 | 1 | Remapped | NT_187628.1 |
| NW_003315968.2 | Chr21|NW_003315968.2 | 2 | 2 | Remapped | NW_003315968.2 |
| NT_187682.1 | Chr22|NT_187682.1 | 7 | 25 | Remapped | NT_187682.1 |
| NW_015148969.1 | Chr22|NW_015148969.1 | 5 | 6 | Remapped | NW_015148969.1 |
| NT_187629.1 | Chr22|NT_187629.1 | 7 | 8 | Remapped | NT_187629.1 |
| NT_187632.1 | Chr22|NT_187632.1 | 1 | 1 | Remapped | NT_187632.1 |
| NT_187633.1 | Chr22|NT_187633.1 | 32 | 1,495 | Remapped | NT_187633.1 |
| NT_187667.1 | ChrX|NT_187667.1 | 39 | 41 | Remapped | NT_187667.1 |
| NW_017363820.1 | ChrX|NW_017363820.1 | 1 | 1 | Remapped | NW_017363820.1 |
| NT_187634.1 | ChrX|NT_187634.1 | 39 | 41 | Remapped | NT_187634.1 |
| NW_018654726.1 | ChrY|NW_018654726.1 | 5 | 5 | Remapped | NW_018654726.1 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.10 | Chr1 | 1,385 | 7,135 | Submitted | NC_000001.10 |
| NC_000002.11 | Chr2 | 1,249 | 6,223 | Submitted | NC_000002.11 |
| NC_000003.11 | Chr3 | 1,000 | 3,579 | Submitted | NC_000003.11 |
| NC_000004.11 | Chr4 | 1,106 | 4,683 | Submitted | NC_000004.11 |
| NC_000005.9 | Chr5 | 1,121 | 5,220 | Submitted | NC_000005.9 |
| NC_000006.11 | Chr6 | 1,574 | 6,792 | Submitted | NC_000006.11 |
| NC_000007.13 | Chr7 | 1,697 | 5,280 | Submitted | NC_000007.13 |
| NC_000008.10 | Chr8 | 865 | 3,871 | Submitted | NC_000008.10 |
| NC_000009.11 | Chr9 | 616 | 903 | Submitted | NC_000009.11 |
| NC_000010.10 | Chr10 | 989 | 2,260 | Submitted | NC_000010.10 |
| NC_000011.9 | Chr11 | 1,135 | 7,949 | Submitted | NC_000011.9 |
| NC_000012.11 | Chr12 | 846 | 4,389 | Submitted | NC_000012.11 |
| NC_000013.10 | Chr13 | 550 | 1,943 | Submitted | NC_000013.10 |
| NC_000014.8 | Chr14 | 2,652 | 9,816 | Submitted | NC_000014.8 |
| NC_000015.9 | Chr15 | 648 | 971 | Submitted | NC_000015.9 |
| NC_000016.9 | Chr16 | 1,126 | 3,570 | Submitted | NC_000016.9 |
| NC_000017.10 | Chr17 | 769 | 3,814 | Submitted | NC_000017.10 |
| NC_000018.9 | Chr18 | 217 | 362 | Submitted | NC_000018.9 |
| NC_000019.9 | Chr19 | 802 | 2,692 | Submitted | NC_000019.9 |
| NC_000020.10 | Chr20 | 364 | 2,665 | Submitted | NC_000020.10 |
| NC_000021.8 | Chr21 | 161 | 252 | Submitted | NC_000021.8 |
| NC_000022.10 | Chr22 | 454 | 2,766 | Submitted | NC_000022.10 |
| NC_000023.10 | ChrX | 1,581 | 3,373 | Submitted | NC_000023.10 |
| NC_000024.9 | ChrY | 641 | 886 | Submitted | NC_000024.9 |
| Variant Region remap status | Variant Call remap status | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sequence ID | Chr | Variant Regions on source | Perfect | Good | Pass | Fail | Mult | Variant Calls on source | Perfect | Good | Pass | Fail | Mult |
| NC_000001.10 | Chr1 | 1,385 | 1,018 | 120 | 30 | 34 | 183 | 7,135 | 3,964 | 135 | 33 | 38 | 2,965 |
| NC_000002.11 | Chr2 | 1,249 | 1,143 | 26 | 51 | 22 | 7 | 6,223 | 5,701 | 28 | 341 | 146 | 7 |
| NC_000003.11 | Chr3 | 1,000 | 881 | 58 | 2 | 0 | 59 | 3,579 | 3,289 | 124 | 2 | 0 | 164 |
| NC_000004.11 | Chr4 | 1,106 | 1,030 | 33 | 3 | 0 | 40 | 4,683 | 4,035 | 61 | 4 | 0 | 583 |
| NC_000005.9 | Chr5 | 1,121 | 1,042 | 21 | 0 | 0 | 58 | 5,220 | 5,123 | 24 | 0 | 0 | 73 |
| NC_000006.11 | Chr6 | 1,574 | 1,498 | 28 | 16 | 4 | 28 | 6,792 | 6,681 | 34 | 23 | 4 | 50 |
| NC_000007.13 | Chr7 | 1,697 | 1,233 | 97 | 64 | 0 | 303 | 5,280 | 3,665 | 119 | 86 | 0 | 1,410 |
| NC_000008.10 | Chr8 | 865 | 692 | 26 | 6 | 3 | 138 | 3,871 | 3,609 | 32 | 10 | 5 | 215 |
| NC_000009.11 | Chr9 | 616 | 606 | 4 | 2 | 2 | 2 | 903 | 893 | 4 | 2 | 2 | 2 |
| NC_000010.10 | Chr10 | 989 | 718 | 60 | 183 | 2 | 26 | 2,260 | 1,484 | 293 | 421 | 2 | 60 |
| NC_000011.9 | Chr11 | 1,135 | 936 | 41 | 25 | 6 | 127 | 7,949 | 7,238 | 54 | 62 | 7 | 588 |
| NC_000012.11 | Chr12 | 846 | 691 | 4 | 3 | 0 | 148 | 4,389 | 3,399 | 4 | 3 | 0 | 983 |
| NC_000013.10 | Chr13 | 550 | 530 | 11 | 4 | 0 | 5 | 1,943 | 1,919 | 11 | 6 | 0 | 7 |
| NC_000014.8 | Chr14 | 2,652 | 510 | 1,668 | 44 | 11 | 419 | 9,816 | 3,230 | 3,230 | 401 | 1,104 | 1,851 |
| NC_000015.9 | Chr15 | 648 | 491 | 39 | 43 | 1 | 74 | 971 | 742 | 55 | 78 | 1 | 95 |
| NC_000016.9 | Chr16 | 1,126 | 862 | 9 | 151 | 2 | 102 | 3,570 | 3,196 | 9 | 220 | 2 | 143 |
| NC_000017.10 | Chr17 | 769 | 348 | 49 | 31 | 0 | 341 | 3,814 | 757 | 58 | 52 | 0 | 2,947 |
| NC_000018.9 | Chr18 | 217 | 191 | 14 | 2 | 0 | 10 | 362 | 308 | 14 | 14 | 0 | 26 |
| NC_000019.9 | Chr19 | 802 | 664 | 56 | 11 | 0 | 71 | 2,692 | 2,210 | 116 | 19 | 0 | 347 |
| NC_000020.10 | Chr20 | 364 | 356 | 4 | 1 | 0 | 3 | 2,665 | 2,652 | 4 | 1 | 0 | 8 |
| NC_000021.8 | Chr21 | 161 | 113 | 43 | 0 | 0 | 5 | 252 | 181 | 66 | 0 | 0 | 5 |
| NC_000022.10 | Chr22 | 454 | 285 | 108 | 45 | 0 | 16 | 2,766 | 2,478 | 193 | 76 | 0 | 19 |
| NC_000023.10 | ChrX | 1,581 | 891 | 395 | 212 | 43 | 40 | 3,373 | 1,864 | 762 | 257 | 448 | 42 |
| NC_000024.9 | ChrY | 641 | 619 | 10 | 5 | 2 | 5 | 886 | 859 | 12 | 8 | 2 | 5 |
Samplesets
Number of Samplesets: 3
- Sampleset ID:
- 1
- Name:
- Neurodevelopmental disorder samples.
- Sampleset Type:
- Case
- Description:
- A collection of individuals diagnosed with, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), schizophrenia (SCZ), or obsessive-compulsive disorder (OCD).
- Size:
- 2,691
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- See phenotypes on samples
| Sample ID | Subject ID | Sex | Ethnicity | Subject Phenotype |
|---|---|---|---|---|
| 1-0139-005 | 1-0139-005 | Female | European | Autism Spectrum Disorder |
| 1-0147-003 | 1-0147-003 | Female | SouthAsian | Autism Spectrum Disorder |
| 1-0345-005 | 1-0345-005 | Male | European | Autism Spectrum Disorder |
| 1-0144-005 | 1-0144-005 | Male | European | Autism Spectrum Disorder |
| 1-0375-003 | 1-0375-003 | Male | European | Autism Spectrum Disorder |
| 1-0219-003 | 1-0219-003 | Male | European | Autism Spectrum Disorder |
| 1-0083-003 | 1-0083-003 | Male | EastAsian | Autism Spectrum Disorder |
| 1-0239-003 | 1-0239-003 | Male | EastAsian | Autism Spectrum Disorder |
| 1-0332-003 | 1-0332-003 | Male | unknown | Autism Spectrum Disorder |
| 1-0112-003 | 1-0112-003 | Male | unknown | Autism Spectrum Disorder |
| 1-0092-004 | 1-0092-004 | Male | European | Autism Spectrum Disorder |
| 1-0065-004 | 1-0065-004 | Male | LatinAmerican | Autism Spectrum Disorder |
| 1-0262-003 | 1-0262-003 | Male | unknown | Autism Spectrum Disorder |
| 1-0376-003 | 1-0376-003 | Male | European | Autism Spectrum Disorder |
| 1-0045-003 | 1-0045-003 | Male | European | Autism Spectrum Disorder |
| 1-0055-003 | 1-0055-003 | Male | European | Autism Spectrum Disorder |
| 1-0228-003 | 1-0228-003 | Male | European | Autism Spectrum Disorder |
| 1-0112-004 | 1-0112-004 | Male | unknown | Autism Spectrum Disorder |
| 1-0318-004 | 1-0318-004 | Male | European | Autism Spectrum Disorder |
| 1-0051-005 | 1-0051-005 | Male | African | Autism Spectrum Disorder |
| 1-0055-004 | 1-0055-004 | Female | European | Autism Spectrum Disorder |
| 1-0244-003 | 1-0244-003 | Male | European | Autism Spectrum Disorder |
| 1-0185-004 | 1-0185-004 | Male | European | Autism Spectrum Disorder |
| 1-0301-003 | 1-0301-003 | Male | SouthAsian | Autism Spectrum Disorder |
| 1-0346-003 | 1-0346-003 | Male | European | Autism Spectrum Disorder |
| 1-0298-003 | 1-0298-003 | Male | European | Autism Spectrum Disorder |
| 1-0286-003 | 1-0286-003 | Male | European | Autism Spectrum Disorder |
| 1-0269-005 | 1-0269-005 | Female | European | Autism Spectrum Disorder |
| 1-0248-003 | 1-0248-003 | Male | European | Autism Spectrum Disorder |
| 1-0340-004 | 1-0340-004 | Male | European | Autism Spectrum Disorder |
| 1-0271-004 | 1-0271-004 | Female | European | Autism Spectrum Disorder |
| 1-0043-003 | 1-0043-003 | Male | European | Autism Spectrum Disorder |
| 1-0045-004 | 1-0045-004 | Male | European | Autism Spectrum Disorder |
| 1-0098-003 | 1-0098-003 | Female | European | Autism Spectrum Disorder |
| 1-0286-004 | 1-0286-004 | Female | European | Autism Spectrum Disorder |
| 1-0231-004 | 1-0231-004 | Male | EastAsian | Autism Spectrum Disorder |
| 1-0158-003 | 1-0158-003 | Male | European | Autism Spectrum Disorder |
| 1-0057-003 | 1-0057-003 | Male | European | Autism Spectrum Disorder |
| 1-0269-003 | 1-0269-003 | Male | European | Autism Spectrum Disorder |
| 1-0290-003 | 1-0290-003 | Male | European | Autism Spectrum Disorder |
| 1-0139-003 | 1-0139-003 | Female | European | Autism Spectrum Disorder |
| 1-0126-003 | 1-0126-003 | Male | European | Autism Spectrum Disorder |
| 1-0352-003 | 1-0352-003 | Male | European | Autism Spectrum Disorder |
| 1-0236-004 | 1-0236-004 | Female | European | Autism Spectrum Disorder |
| 1-0344-003 | 1-0344-003 | Male | LatinAmerican | Autism Spectrum Disorder |
| 1-0004-003 | 1-0004-003 | Female | European | Autism Spectrum Disorder |
| 1-0271-003 | 1-0271-003 | Male | European | Autism Spectrum Disorder |
| 1-0134-004 | 1-0134-004 | Male | European | Autism Spectrum Disorder |
| 1-0346-004 | 1-0346-004 | Male | European | Autism Spectrum Disorder |
| 1-0171-005 | 1-0171-005 | Male | unknown | Autism Spectrum Disorder |
| 1-0121-003 | 1-0121-003 | Male | EastAsian | Autism Spectrum Disorder |
| 1-0275-003 | 1-0275-003 | Male | African | Autism Spectrum Disorder |
| 1-0389-004 | 1-0389-004 | Male | European | Autism Spectrum Disorder |
| 1-0025-004 | 1-0025-004 | Male | EastAsian | Autism Spectrum Disorder |
| 1-0216-003 | 1-0216-003 | Male | SouthAsian | Autism Spectrum Disorder |
| 1-0153-005 | 1-0153-005 | Male | European | Autism Spectrum Disorder |
| 1-0067-004 | 1-0067-004 | Male | unknown | Autism Spectrum Disorder |
| 1-0185-003 | 1-0185-003 | Female | European | Autism Spectrum Disorder |
| 1-0006-004 | 1-0006-004 | Male | European | Autism Spectrum Disorder |
| 1-0262-004 | 1-0262-004 | Male | unknown | Autism Spectrum Disorder |
| 1-0224-004 | 1-0224-004 | Male | European | Autism Spectrum Disorder |
| 1-0171-004 | 1-0171-004 | Male | unknown | Autism Spectrum Disorder |
| 1-0181-004 | 1-0181-004 | Male | European | Autism Spectrum Disorder |
| 1-0190-003 | 1-0190-003 | Male | SouthAsian | Autism Spectrum Disorder |
| 1-0299-004 | 1-0299-004 | Male | European | Autism Spectrum Disorder |
| 1-0186-004 | 1-0186-004 | Male | European | Autism Spectrum Disorder |
| 1-0232-003 | 1-0232-003 | Male | European | Autism Spectrum Disorder |
| 1-0299-003 | 1-0299-003 | Male | European | Autism Spectrum Disorder |
| 1-0191-004 | 1-0191-004 | Male | European | Autism Spectrum Disorder |
| 1-0259-005 | 1-0259-005 | Male | European | Autism Spectrum Disorder |
| 1-0236-003 | 1-0236-003 | Male | European | Autism Spectrum Disorder |
| 1-0332-005 | 1-0332-005 | Male | unknown | Autism Spectrum Disorder |
| 1-0153-004 | 1-0153-004 | Male | European | Autism Spectrum Disorder |
| 1-0051-004 | 1-0051-004 | Male | African | Autism Spectrum Disorder |
| 1-0261-004 | 1-0261-004 | Male | SouthAsian | Autism Spectrum Disorder |
| 1-0255-003 | 1-0255-003 | Male | EastAsian | Autism Spectrum Disorder |
| 1-0345-003 | 1-0345-003 | Female | European | Autism Spectrum Disorder |
| 1-0261-003 | 1-0261-003 | Female | SouthAsian | Autism Spectrum Disorder |
| 1-0382-003 | 1-0382-003 | Male | European | Autism Spectrum Disorder |
| 1-0232-004 | 1-0232-004 | Male | European | Autism Spectrum Disorder |
| 1-0035-003 | 1-0035-003 | Male | European | Autism Spectrum Disorder |
| 1-0403-003 | 1-0403-003 | Male | European | Autism Spectrum Disorder |
| 1-0081-003 | 1-0081-003 | Male | European | Autism Spectrum Disorder |
| 1-0208-003 | 1-0208-003 | Female | European | Autism Spectrum Disorder |
| 1-0186-005 | 1-0186-005 | Male | European | Autism Spectrum Disorder |
| 1-0318-003 | 1-0318-003 | Male | European | Autism Spectrum Disorder |
| 1-0278-003 | 1-0278-003 | Male | SouthAsian | Autism Spectrum Disorder |
| 1-0263-003 | 1-0263-003 | Male | European | Autism Spectrum Disorder |
| 1-0323-004 | 1-0323-004 | Male | European | Autism Spectrum Disorder |
| 1-0135-003 | 1-0135-003 | Male | European | Autism Spectrum Disorder |
| 1-0345-004 | 1-0345-004 | Male | European | Autism Spectrum Disorder |
| 1-0389-003 | 1-0389-003 | Male | European | Autism Spectrum Disorder |
| 1-0144-004 | 1-0144-004 | Male | unknown | Autism Spectrum Disorder |
| 1-0051-003 | 1-0051-003 | Female | African | Autism Spectrum Disorder |
| 1-0059-003 | 1-0059-003 | Male | European | Autism Spectrum Disorder |
| 1-0025-006 | 1-0025-006 | Male | EastAsian | Autism Spectrum Disorder |
| 1-0231-003 | 1-0231-003 | Male | EastAsian | Autism Spectrum Disorder |
| 1-0013-003 | 1-0013-003 | Female | EastAsian | Autism Spectrum Disorder |
| 1-0291-003 | 1-0291-003 | Male | European | Autism Spectrum Disorder |
| 1-0245-006 | 1-0245-006 | Male | European | Autism Spectrum Disorder |
- Sampleset ID:
- 2
- Name:
- Unaffected Family Member
- Sampleset Type:
- Control
- Size:
- 1,769
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- Unaffected family member
| Sample ID | Subject ID | Sex | Ethnicity | Subject Phenotype |
|---|---|---|---|---|
| 1-0059-002 | 1-0059-002 | Male | European | Unaffected family member |
| 1-0255-001 | 1-0255-001 | Female | EastAsian | Unaffected family member |
| 1-0332-002 | 1-0332-002 | Male | unknown | Unaffected family member |
| 1-0112-005 | 1-0112-005 | Male | unknown | Unaffected family member |
| 1-0286-002 | 1-0286-002 | Male | European | Unaffected family member |
| 1-0190-002 | 1-0190-002 | Male | SouthAsian | Unaffected family member |
| 1-0059-004 | 1-0059-004 | Female | European | Unaffected family member |
| 1-0153-002 | 1-0153-002 | Male | European | Unaffected family member |
| 1-0219-002 | 1-0219-002 | Male | European | Unaffected family member |
| 1-0244-002 | 1-0244-002 | Male | unknown | Unaffected family member |
| 1-0286-001 | 1-0286-001 | Female | European | Unaffected family member |
| 1-0278-004 | 1-0278-004 | Female | SouthAsian | Unaffected family member |
| 1-0208-002 | 1-0208-002 | Male | European | Unaffected family member |
| 1-0244-001 | 1-0244-001 | Female | European | Unaffected family member |
| 1-0244-004 | 1-0244-004 | Female | European | Unaffected family member |
| 1-0232-001 | 1-0232-001 | Female | European | Unaffected family member |
| 1-0291-004 | 1-0291-004 | Female | European | Unaffected family member |
| 1-0139-004 | 1-0139-004 | Male | European | Unaffected family member |
| 1-0112-001 | 1-0112-001 | Female | European | Unaffected family member |
| 1-0228-001 | 1-0228-001 | Female | European | Unaffected family member |
| 1-0171-003 | 1-0171-003 | Female | unknown | Unaffected family member |
| 1-0181-001 | 1-0181-001 | Female | European | Unaffected family member |
| 1-0139-001 | 1-0139-001 | Female | European | Unaffected family member |
| 1-0332-001 | 1-0332-001 | Female | unknown | Unaffected family member |
| 1-0153-001 | 1-0153-001 | Female | European | Unaffected family member |
| 1-0236-005 | 1-0236-005 | Male | European | Unaffected family member |
| 1-0144-001 | 1-0144-001 | Female | unknown | Unaffected family member |
| 1-0045-002 | 1-0045-002 | Male | European | Unaffected family member |
| 1-0045-001 | 1-0045-001 | Female | European | Unaffected family member |
| 1-0144-003 | 1-0144-003 | Female | unknown | Unaffected family member |
| 1-0139-002 | 1-0139-002 | Male | European | Unaffected family member |
| 1-0298-002 | 1-0298-002 | Male | European | Unaffected family member |
| 1-0083-002 | 1-0083-002 | Male | EastAsian | Unaffected family member |
| 1-0299-002 | 1-0299-002 | Male | European | Unaffected family member |
| 1-0092-002 | 1-0092-002 | Male | European | Unaffected family member |
| 1-0025-005 | 1-0025-005 | Female | EastAsian | Unaffected family member |
| 1-0269-002 | 1-0269-002 | Male | European | Unaffected family member |
| 1-0224-003 | 1-0224-003 | Male | European | Unaffected family member |
| 1-0025-002 | 1-0025-002 | Male | EastAsian | Unaffected family member |
| 1-0092-005 | 1-0092-005 | Male | European | Unaffected family member |
| 1-0255-002 | 1-0255-002 | Male | EastAsian | Unaffected family member |
| 1-0262-001 | 1-0262-001 | Female | European | Unaffected family member |
| 1-0228-004 | 1-0228-004 | Female | European | Unaffected family member |
| 1-0190-001 | 1-0190-001 | Female | SouthAsian | Unaffected family member |
| 1-0262-002 | 1-0262-002 | Male | SouthAsian | Unaffected family member |
| 1-0298-004 | 1-0298-004 | Female | European | Unaffected family member |
| 1-0298-001 | 1-0298-001 | Female | European | Unaffected family member |
| 1-0121-001 | 1-0121-001 | Female | EastAsian | Unaffected family member |
| 1-0171-001 | 1-0171-001 | Female | unknown | Unaffected family member |
| 1-0144-002 | 1-0144-002 | Male | European | Unaffected family member |
| 1-0051-006 | 1-0051-006 | Female | African | Unaffected family member |
| 1-0261-002 | 1-0261-002 | Male | SouthAsian | Unaffected family member |
| 1-0271-002 | 1-0271-002 | Male | European | Unaffected family member |
| 1-0278-001 | 1-0278-001 | Female | SouthAsian | Unaffected family member |
| 1-0263-004 | 1-0263-004 | Female | European | Unaffected family member |
| 1-0181-002 | 1-0181-002 | Male | European | Unaffected family member |
| 1-0269-001 | 1-0269-001 | Female | European | Unaffected family member |
| 1-0055-001 | 1-0055-001 | Female | European | Unaffected family member |
| 1-0171-002 | 1-0171-002 | Male | European | Unaffected family member |
| 1-0186-001 | 1-0186-001 | Female | European | Unaffected family member |
| 1-0261-001 | 1-0261-001 | Female | SouthAsian | Unaffected family member |
| 1-0232-002 | 1-0232-002 | Male | European | Unaffected family member |
| 1-0224-002 | 1-0224-002 | Male | European | Unaffected family member |
| 1-0186-002 | 1-0186-002 | Male | European | Unaffected family member |
| 1-0004-001 | 1-0004-001 | Female | European | Unaffected family member |
| 1-0083-001 | 1-0083-001 | Female | EastAsian | Unaffected family member |
| 1-0278-002 | 1-0278-002 | Male | SouthAsian | Unaffected family member |
| 1-0057-001 | 1-0057-001 | Female | European | Unaffected family member |
| 1-0025-001 | 1-0025-001 | Female | EastAsian | Unaffected family member |
| 1-0278-005 | 1-0278-005 | Female | SouthAsian | Unaffected family member |
| 1-0228-005 | 1-0228-005 | Male | European | Unaffected family member |
| 1-0121-002 | 1-0121-002 | Male | EastAsian | Unaffected family member |
| 1-0004-002 | 1-0004-002 | Male | European | Unaffected family member |
| 1-0263-002 | 1-0263-002 | Male | European | Unaffected family member |
| 1-0059-001 | 1-0059-001 | Female | European | Unaffected family member |
| 1-0051-002 | 1-0051-002 | Male | African | Unaffected family member |
| 1-0291-002 | 1-0291-002 | Male | European | Unaffected family member |
| 1-0299-001 | 1-0299-001 | Female | European | Unaffected family member |
| 1-0025-003 | 1-0025-003 | Male | EastAsian | Unaffected family member |
| 1-0275-001 | 1-0275-001 | Female | African | Unaffected family member |
| 1-0208-001 | 1-0208-001 | Female | European | Unaffected family member |
| 1-0219-004 | 1-0219-004 | Female | European | Unaffected family member |
| 1-0224-001 | 1-0224-001 | Female | European | Unaffected family member |
| 1-0231-002 | 1-0231-002 | Male | EastAsian | Unaffected family member |
| 1-0004-004 | 1-0004-004 | Male | European | Unaffected family member |
| 1-0057-002 | 1-0057-002 | Male | European | Unaffected family member |
| 1-0244-005 | 1-0244-005 | Male | European | Unaffected family member |
| 1-0112-002 | 1-0112-002 | Male | EastAsian | Unaffected family member |
| 1-0271-001 | 1-0271-001 | Female | European | Unaffected family member |
| 1-0051-001 | 1-0051-001 | Female | African | Unaffected family member |
| 1-0291-005 | 1-0291-005 | Male | European | Unaffected family member |
| 1-0236-001 | 1-0236-001 | Female | European | Unaffected family member |
| 1-0263-001 | 1-0263-001 | Female | European | Unaffected family member |
| 1-0219-001 | 1-0219-001 | Female | European | Unaffected family member |
| 1-0291-001 | 1-0291-001 | Female | European | Unaffected family member |
| 1-0083-004 | 1-0083-004 | Male | EastAsian | Unaffected family member |
| 1-0275-002 | 1-0275-002 | Male | African | Unaffected family member |
| 1-0299-005 | 1-0299-005 | Female | European | Unaffected family member |
| 1-0236-002 | 1-0236-002 | Male | European | Unaffected family member |
| 1-0092-001 | 1-0092-001 | Female | European | Unaffected family member |
- Sampleset ID:
- 3
- Name:
- Affymetrix Pooled Reference
- Sampleset Type:
- Control
- Description:
- The Reference Model file in CytoScan Cytogenetics Suite includes 380 samples, which were run as part of a larger set of microarrays by nine operators. These operators processed~48 unique samples in two rounds each, with random placement of sample DNAs across the PCR plates and with random use of instruments and reagents. The source DNA includes the following samples: 284 HapMap samples including at least one replicate of each of 270 HapMap samples: 90 from each of the Yoruban, Asian, and Caucasian ethnic groups, from cell line-derived DNAs from the Coriell Institute of Medical Research. 96 DNA samples from blood of phenotypically healthy male and female individuals obtained from BioServe Biotechnologies
- Size:
- 380 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
Experimental Details
| Experiment ID | Type | Method | Analysis | Platforms | Number of Variant Calls |
|---|---|---|---|---|---|
| 1 | Genotyping | SNP array | Genotyping | GPL16131 | 91,394 |