nstd68 (Wong et al. 2006)
- Organism:
- Human
- Study Type:
- Control Set
- Submitter:
- Database of Genomic Variants
- Description:
- Segmental copy-number variations (CNVs) in the human genome are associated with developmental disorders and susceptibility to diseases. More importantly, CNVs may represent a major genetic component of our phenotypic diversity. In this study, using a whole-genome array comparative genomic hybridization assay, we identified 3,654 autosomal segmental CNVs, 800 of which appeared at a frequency of at least 3%. Of these frequent CNVs, 77% are novel. In the 95 individuals analyzed, the two most diverse genomes differed by at least 9 Mb in size or varied by at least 266 loci in content. Approximately 68% of the 800 polymorphic regions overlap with genes, which may reflect human diversity in senses (smell, hearing, taste, and sight), rhesus phenotype, metabolism, and disease susceptibility. Intriguingly, 14 polymorphic regions harbor 21 of the known human microRNAs, raising the possibility of the contribution of microRNAs to phenotypic diversity in humans. This in-depth survey of CNVs across the human genome provides a valuable baseline for studies involving human genetics. See Variant Summary counts for nstd68 in dbVar Variant Summary.
- Publication(s):
- Wong et al. 2006
Detailed Information: Download 5132 Variant Regions, Download 14709 Variant Calls, Download Both, FTP
Variant Summary
Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI35 (hg17)
Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
---|---|---|---|---|---|
NC_000001.11 | Chr1 | 406 | 1,155 | Remapped | NC_000001.11 |
NC_000002.12 | Chr2 | 412 | 805 | Remapped | NC_000002.12 |
NC_000003.12 | Chr3 | 338 | 606 | Remapped | NC_000003.12 |
NC_000004.12 | Chr4 | 315 | 751 | Remapped | NC_000004.12 |
NC_000005.10 | Chr5 | 347 | 920 | Remapped | NC_000005.10 |
NC_000006.12 | Chr6 | 275 | 584 | Remapped | NC_000006.12 |
NC_000007.14 | Chr7 | 297 | 890 | Remapped | NC_000007.14 |
NC_000008.11 | Chr8 | 258 | 645 | Remapped | NC_000008.11 |
NC_000009.12 | Chr9 | 244 | 551 | Remapped | NC_000009.12 |
NC_000010.11 | Chr10 | 250 | 695 | Remapped | NC_000010.11 |
NC_000011.10 | Chr11 | 233 | 554 | Remapped | NC_000011.10 |
NC_000012.12 | Chr12 | 229 | 503 | Remapped | NC_000012.12 |
NC_000013.11 | Chr13 | 156 | 355 | Remapped | NC_000013.11 |
NC_000014.9 | Chr14 | 157 | 799 | Remapped | NC_000014.9 |
NC_000015.10 | Chr15 | 183 | 680 | Remapped | NC_000015.10 |
NC_000016.10 | Chr16 | 199 | 926 | Remapped | NC_000016.10 |
NC_000017.11 | Chr17 | 219 | 763 | Remapped | NC_000017.11 |
NC_000018.10 | Chr18 | 113 | 273 | Remapped | NC_000018.10 |
NC_000019.10 | Chr19 | 167 | 743 | Remapped | NC_000019.10 |
NC_000020.11 | Chr20 | 133 | 467 | Remapped | NC_000020.11 |
NC_000021.9 | Chr21 | 69 | 284 | Remapped | NC_000021.9 |
NC_000022.11 | Chr22 | 116 | 590 | Remapped | NC_000022.11 |
NT_187514.1 | Chr1|NT_187514.1 | 1 | 1 | Remapped | NT_187514.1 |
NT_187515.1 | Chr1|NT_187515.1 | 1 | 1 | Remapped | NT_187515.1 |
NT_187519.1 | Chr1|NT_187519.1 | 4 | 5 | Remapped | NT_187519.1 |
NW_003315906.1 | Chr1|NW_003315906.1 | 2 | 8 | Remapped | NW_003315906.1 |
NW_003315907.2 | Chr1|NW_003315907.2 | 1 | 2 | Remapped | NW_003315907.2 |
NW_011332688.1 | Chr1|NW_011332688.1 | 1 | 2 | Remapped | NW_011332688.1 |
NW_012132914.1 | Chr1|NW_012132914.1 | 1 | 1 | Remapped | NW_012132914.1 |
NW_014040926.1 | Chr1|NW_014040926.1 | 1 | 2 | Remapped | NW_014040926.1 |
NW_018654707.1 | Chr1|NW_018654707.1 | 1 | 1 | Remapped | NW_018654707.1 |
NT_187524.1 | Chr2|NT_187524.1 | 1 | 1 | Remapped | NT_187524.1 |
NT_187529.1 | Chr2|NT_187529.1 | 1 | 2 | Remapped | NT_187529.1 |
NT_187530.1 | Chr2|NT_187530.1 | 1 | 1 | Remapped | NT_187530.1 |
NT_187648.1 | Chr2|NT_187648.1 | 1 | 1 | Remapped | NT_187648.1 |
NW_003315908.1 | Chr2|NW_003315908.1 | 1 | 1 | Remapped | NW_003315908.1 |
NW_003571033.2 | Chr2|NW_003571033.2 | 1 | 1 | Remapped | NW_003571033.2 |
NW_011332689.1 | Chr2|NW_011332689.1 | 1 | 1 | Remapped | NW_011332689.1 |
NW_012132915.1 | Chr2|NW_012132915.1 | 3 | 46 | Remapped | NW_012132915.1 |
NW_015495299.1 | Chr2|NW_015495299.1 | 2 | 3 | Remapped | NW_015495299.1 |
NT_187678.1 | Chr3|NT_187678.1 | 1 | 5 | Remapped | NT_187678.1 |
NT_187688.1 | Chr3|NT_187688.1 | 1 | 5 | Remapped | NT_187688.1 |
NT_187689.1 | Chr3|NT_187689.1 | 1 | 5 | Remapped | NT_187689.1 |
NT_187690.1 | Chr3|NT_187690.1 | 1 | 5 | Remapped | NT_187690.1 |
NT_187691.1 | Chr3|NT_187691.1 | 1 | 5 | Remapped | NT_187691.1 |
NT_187532.1 | Chr3|NT_187532.1 | 1 | 5 | Remapped | NT_187532.1 |
NT_187535.1 | Chr3|NT_187535.1 | 1 | 1 | Remapped | NT_187535.1 |
NT_187538.1 | Chr3|NT_187538.1 | 1 | 5 | Remapped | NT_187538.1 |
NT_187649.1 | Chr3|NT_187649.1 | 1 | 5 | Remapped | NT_187649.1 |
NW_003871060.2 | Chr3|NW_003871060.2 | 1 | 2 | Remapped | NW_003871060.2 |
NW_009646197.1 | Chr3|NW_009646197.1 | 1 | 1 | Remapped | NW_009646197.1 |
NW_019805489.1 | Chr3|NW_019805489.1 | 1 | 2 | Remapped | NW_019805489.1 |
NT_187679.1 | Chr4|NT_187679.1 | 2 | 5 | Remapped | NT_187679.1 |
NT_167250.2 | Chr4|NT_167250.2 | 2 | 2 | Remapped | NT_167250.2 |
NT_187540.1 | Chr4|NT_187540.1 | 1 | 1 | Remapped | NT_187540.1 |
NW_003315914.1 | Chr4|NW_003315914.1 | 1 | 1 | Remapped | NW_003315914.1 |
NW_003315915.1 | Chr4|NW_003315915.1 | 2 | 7 | Remapped | NW_003315915.1 |
NT_187547.1 | Chr5|NT_187547.1 | 1 | 1 | Remapped | NT_187547.1 |
NT_187550.1 | Chr5|NT_187550.1 | 1 | 9 | Remapped | NT_187550.1 |
NT_187651.1 | Chr5|NT_187651.1 | 5 | 110 | Remapped | NT_187651.1 |
NW_003315917.2 | Chr5|NW_003315917.2 | 6 | 186 | Remapped | NW_003315917.2 |
NW_016107298.1 | Chr5|NW_016107298.1 | 2 | 5 | Remapped | NW_016107298.1 |
NT_167246.2 | Chr6|NT_167246.2 | 11 | 51 | Remapped | NT_167246.2 |
NT_167247.2 | Chr6|NT_167247.2 | 13 | 54 | Remapped | NT_167247.2 |
NT_167248.2 | Chr6|NT_167248.2 | 12 | 53 | Remapped | NT_167248.2 |
NT_167249.2 | Chr6|NT_167249.2 | 14 | 56 | Remapped | NT_167249.2 |
NT_167245.2 | Chr6|NT_167245.2 | 12 | 53 | Remapped | NT_167245.2 |
NT_113891.3 | Chr6|NT_113891.3 | 14 | 55 | Remapped | NT_113891.3 |
NT_167244.2 | Chr6|NT_167244.2 | 7 | 7 | Remapped | NT_167244.2 |
NT_187556.1 | Chr6|NT_187556.1 | 2 | 3 | Remapped | NT_187556.1 |
NW_012132918.1 | Chr6|NW_012132918.1 | 1 | 1 | Remapped | NW_012132918.1 |
NW_013171802.1 | Chr6|NW_013171802.1 | 2 | 4 | Remapped | NW_013171802.1 |
NT_187558.1 | Chr7|NT_187558.1 | 1 | 2 | Remapped | NT_187558.1 |
NT_187559.1 | Chr7|NT_187559.1 | 1 | 2 | Remapped | NT_187559.1 |
NT_187560.1 | Chr7|NT_187560.1 | 1 | 1 | Remapped | NT_187560.1 |
NT_187562.1 | Chr7|NT_187562.1 | 7 | 29 | Remapped | NT_187562.1 |
NT_187653.1 | Chr7|NT_187653.1 | 1 | 2 | Remapped | NT_187653.1 |
NW_018654714.1 | Chr7|NW_018654714.1 | 2 | 24 | Remapped | NW_018654714.1 |
NW_018654715.1 | Chr7|NW_018654715.1 | 2 | 2 | Remapped | NW_018654715.1 |
NW_019805493.1 | Chr7|NW_019805493.1 | 1 | 9 | Remapped | NW_019805493.1 |
NT_187566.1 | Chr8|NT_187566.1 | 1 | 22 | Remapped | NT_187566.1 |
NT_187571.1 | Chr8|NT_187571.1 | 1 | 3 | Remapped | NT_187571.1 |
NT_187574.1 | Chr8|NT_187574.1 | 1 | 1 | Remapped | NT_187574.1 |
NT_187576.1 | Chr8|NT_187576.1 | 2 | 4 | Remapped | NT_187576.1 |
NW_017852932.1 | Chr8|NW_017852932.1 | 1 | 1 | Remapped | NW_017852932.1 |
NW_018654717.1 | Chr8|NW_018654717.1 | 10 | 20 | Remapped | NW_018654717.1 |
NT_187578.1 | Chr9|NT_187578.1 | 2 | 2 | Remapped | NT_187578.1 |
NW_003315928.1 | Chr9|NW_003315928.1 | 1 | 1 | Remapped | NW_003315928.1 |
NW_003315930.1 | Chr9|NW_003315930.1 | 1 | 1 | Remapped | NW_003315930.1 |
NT_187579.1 | Chr10|NT_187579.1 | 3 | 5 | Remapped | NT_187579.1 |
NT_187681.1 | Chr11|NT_187681.1 | 1 | 16 | Remapped | NT_187681.1 |
NT_187581.1 | Chr11|NT_187581.1 | 1 | 1 | Remapped | NT_187581.1 |
NT_187585.1 | Chr11|NT_187585.1 | 1 | 15 | Remapped | NT_187585.1 |
NW_003871073.1 | Chr11|NW_003871073.1 | 1 | 1 | Remapped | NW_003871073.1 |
NW_013171808.1 | Chr11|NW_013171808.1 | 2 | 11 | Remapped | NW_013171808.1 |
NW_015148966.1 | Chr11|NW_015148966.1 | 1 | 16 | Remapped | NW_015148966.1 |
NW_019805495.1 | Chr11|NW_019805495.1 | 2 | 2 | Remapped | NW_019805495.1 |
NW_019805496.1 | Chr11|NW_019805496.1 | 2 | 4 | Remapped | NW_019805496.1 |
NT_187658.1 | Chr12|NT_187658.1 | 1 | 3 | Remapped | NT_187658.1 |
NT_187587.1 | Chr12|NT_187587.1 | 1 | 1 | Remapped | NT_187587.1 |
NW_003571049.1 | Chr12|NW_003571049.1 | 2 | 3 | Remapped | NW_003571049.1 |
NW_003571050.1 | Chr12|NW_003571050.1 | 1 | 3 | Remapped | NW_003571050.1 |
NW_011332696.1 | Chr12|NW_011332696.1 | 1 | 1 | Remapped | NW_011332696.1 |
NW_018654718.1 | Chr12|NW_018654718.1 | 5 | 15 | Remapped | NW_018654718.1 |
NW_019805499.1 | Chr12|NW_019805499.1 | 2 | 2 | Remapped | NW_019805499.1 |
NW_011332699.1 | Chr13|NW_011332699.1 | 1 | 4 | Remapped | NW_011332699.1 |
NW_013171810.1 | Chr13|NW_013171810.1 | 2 | 2 | Remapped | NW_013171810.1 |
NT_187600.1 | Chr14|NT_187600.1 | 7 | 131 | Remapped | NT_187600.1 |
NT_187601.1 | Chr14|NT_187601.1 | 2 | 3 | Remapped | NT_187601.1 |
NT_187659.1 | Chr15|NT_187659.1 | 3 | 11 | Remapped | NT_187659.1 |
NT_187660.1 | Chr15|NT_187660.1 | 14 | 140 | Remapped | NT_187660.1 |
NT_187382.1 | Chr15|NT_187382.1 | 2 | 39 | Remapped | NT_187382.1 |
NT_187602.1 | Chr15|NT_187602.1 | 3 | 71 | Remapped | NT_187602.1 |
NT_187603.1 | Chr15|NT_187603.1 | 3 | 11 | Remapped | NT_187603.1 |
NT_187604.1 | Chr15|NT_187604.1 | 5 | 31 | Remapped | NT_187604.1 |
NT_187605.1 | Chr15|NT_187605.1 | 1 | 1 | Remapped | NT_187605.1 |
NT_187606.1 | Chr15|NT_187606.1 | 2 | 2 | Remapped | NT_187606.1 |
NW_003315943.1 | Chr15|NW_003315943.1 | 1 | 3 | Remapped | NW_003315943.1 |
NW_011332701.1 | Chr15|NW_011332701.1 | 13 | 135 | Remapped | NW_011332701.1 |
NT_187607.1 | Chr16|NT_187607.1 | 6 | 71 | Remapped | NT_187607.1 |
NT_187608.1 | Chr16|NT_187608.1 | 1 | 2 | Remapped | NT_187608.1 |
NT_187609.1 | Chr16|NT_187609.1 | 1 | 4 | Remapped | NT_187609.1 |
NW_003315945.1 | Chr16|NW_003315945.1 | 1 | 2 | Remapped | NW_003315945.1 |
NW_017852933.1 | Chr16|NW_017852933.1 | 1 | 1 | Remapped | NW_017852933.1 |
NW_019805500.1 | Chr16|NW_019805500.1 | 2 | 3 | Remapped | NW_019805500.1 |
NT_187663.1 | Chr17|NT_187663.1 | 3 | 61 | Remapped | NT_187663.1 |
NT_187664.1 | Chr17|NT_187664.1 | 2 | 7 | Remapped | NT_187664.1 |
NT_167251.2 | Chr17|NT_167251.2 | 3 | 61 | Remapped | NT_167251.2 |
NT_187613.1 | Chr17|NT_187613.1 | 2 | 7 | Remapped | NT_187613.1 |
NT_187614.1 | Chr17|NT_187614.1 | 11 | 100 | Remapped | NT_187614.1 |
NW_003315955.1 | Chr17|NW_003315955.1 | 1 | 1 | Remapped | NW_003315955.1 |
NW_017363818.1 | Chr17|NW_017363818.1 | 1 | 1 | Remapped | NW_017363818.1 |
NW_017363819.1 | Chr17|NW_017363819.1 | 3 | 16 | Remapped | NW_017363819.1 |
NT_187665.1 | Chr18|NT_187665.1 | 1 | 1 | Remapped | NT_187665.1 |
NW_003315958.1 | Chr18|NW_003315958.1 | 1 | 1 | Remapped | NW_003315958.1 |
NW_013171814.1 | Chr18|NW_013171814.1 | 3 | 3 | Remapped | NW_013171814.1 |
NW_019805502.1 | Chr18|NW_019805502.1 | 1 | 1 | Remapped | NW_019805502.1 |
NW_019805503.1 | Chr18|NW_019805503.1 | 1 | 1 | Remapped | NW_019805503.1 |
NT_187693.1 | Chr19|NT_187693.1 | 4 | 8 | Remapped | NT_187693.1 |
NW_003571061.2 | Chr19|NW_003571061.2 | 2 | 2 | Remapped | NW_003571061.2 |
NW_003571057.2 | Chr19|NW_003571057.2 | 2 | 2 | Remapped | NW_003571057.2 |
NW_003571058.2 | Chr19|NW_003571058.2 | 2 | 2 | Remapped | NW_003571058.2 |
NW_003571059.2 | Chr19|NW_003571059.2 | 2 | 2 | Remapped | NW_003571059.2 |
NW_003571060.1 | Chr19|NW_003571060.1 | 3 | 5 | Remapped | NW_003571060.1 |
NW_003571056.2 | Chr19|NW_003571056.2 | 2 | 2 | Remapped | NW_003571056.2 |
NW_003571055.2 | Chr19|NW_003571055.2 | 2 | 4 | Remapped | NW_003571055.2 |
NW_003315964.2 | Chr19|NW_003315964.2 | 2 | 3 | Remapped | NW_003315964.2 |
NW_003315965.1 | Chr19|NW_003315965.1 | 1 | 1 | Remapped | NW_003315965.1 |
NW_003571054.1 | Chr19|NW_003571054.1 | 3 | 5 | Remapped | NW_003571054.1 |
NW_014040929.1 | Chr19|NW_014040929.1 | 2 | 2 | Remapped | NW_014040929.1 |
NW_003315966.2 | Chr20|NW_003315966.2 | 1 | 1 | Remapped | NW_003315966.2 |
NT_187628.1 | Chr21|NT_187628.1 | 1 | 2 | Remapped | NT_187628.1 |
NW_015148969.1 | Chr22|NW_015148969.1 | 1 | 3 | Remapped | NW_015148969.1 |
NT_187387.1 | Chr22|NT_187387.1 | 1 | 1 | Remapped | NT_187387.1 |
NT_187629.1 | Chr22|NT_187629.1 | 1 | 7 | Remapped | NT_187629.1 |
NT_187632.1 | Chr22|NT_187632.1 | 1 | 4 | Remapped | NT_187632.1 |
Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
---|---|---|---|---|---|
NC_000001.10 | Chr1 | 413 | 1,208 | Remapped | NC_000001.10 |
NC_000002.11 | Chr2 | 412 | 805 | Remapped | NC_000002.11 |
NC_000003.11 | Chr3 | 338 | 606 | Remapped | NC_000003.11 |
NC_000004.11 | Chr4 | 315 | 751 | Remapped | NC_000004.11 |
NC_000005.9 | Chr5 | 347 | 920 | Remapped | NC_000005.9 |
NC_000006.11 | Chr6 | 275 | 584 | Remapped | NC_000006.11 |
NC_000007.13 | Chr7 | 295 | 886 | Remapped | NC_000007.13 |
NC_000008.10 | Chr8 | 259 | 648 | Remapped | NC_000008.10 |
NC_000009.11 | Chr9 | 242 | 546 | Remapped | NC_000009.11 |
NC_000010.10 | Chr10 | 250 | 695 | Remapped | NC_000010.10 |
NC_000011.9 | Chr11 | 233 | 554 | Remapped | NC_000011.9 |
NC_000012.11 | Chr12 | 227 | 500 | Remapped | NC_000012.11 |
NC_000013.10 | Chr13 | 156 | 355 | Remapped | NC_000013.10 |
NC_000014.8 | Chr14 | 157 | 799 | Remapped | NC_000014.8 |
NC_000015.9 | Chr15 | 182 | 612 | Remapped | NC_000015.9 |
NC_000016.9 | Chr16 | 199 | 926 | Remapped | NC_000016.9 |
NC_000017.10 | Chr17 | 217 | 750 | Remapped | NC_000017.10 |
NC_000018.9 | Chr18 | 113 | 273 | Remapped | NC_000018.9 |
NC_000019.9 | Chr19 | 166 | 742 | Remapped | NC_000019.9 |
NC_000020.10 | Chr20 | 132 | 466 | Remapped | NC_000020.10 |
NC_000021.8 | Chr21 | 69 | 284 | Remapped | NC_000021.8 |
NC_000022.10 | Chr22 | 115 | 589 | Remapped | NC_000022.10 |
NW_003315906.1 | Chr1|NW_003315906.1 | 2 | 8 | Remapped | NW_003315906.1 |
NW_003315907.1 | Chr1|NW_003315907.1 | 1 | 2 | Remapped | NW_003315907.1 |
NW_003871055.3 | Chr1|NW_003871055.3 | 11 | 23 | Remapped | NW_003871055.3 |
NW_003871056.3 | Chr1|NW_003871056.3 | 6 | 33 | Remapped | NW_003871056.3 |
NW_003871057.1 | Chr1|NW_003871057.1 | 2 | 8 | Remapped | NW_003871057.1 |
NW_003315908.1 | Chr2|NW_003315908.1 | 1 | 1 | Remapped | NW_003315908.1 |
NW_003571033.2 | Chr2|NW_003571033.2 | 1 | 1 | Remapped | NW_003571033.2 |
NW_004504299.1 | Chr2|NW_004504299.1 | 1 | 2 | Remapped | NW_004504299.1 |
NW_003871058.1 | Chr3|NW_003871058.1 | 1 | 1 | Remapped | NW_003871058.1 |
NW_003871059.1 | Chr3|NW_003871059.1 | 1 | 18 | Remapped | NW_003871059.1 |
NW_003871060.1 | Chr3|NW_003871060.1 | 1 | 2 | Remapped | NW_003871060.1 |
NW_004775426.1 | Chr3|NW_004775426.1 | 1 | 1 | Remapped | NW_004775426.1 |
NT_167250.1 | Chr4|NT_167250.1 | 2 | 2 | Remapped | NT_167250.1 |
NW_003315914.1 | Chr4|NW_003315914.1 | 1 | 1 | Remapped | NW_003315914.1 |
NW_003315915.1 | Chr4|NW_003315915.1 | 2 | 7 | Remapped | NW_003315915.1 |
NW_003571034.1 | Chr4|NW_003571034.1 | 2 | 4 | Remapped | NW_003571034.1 |
NW_004775427.1 | Chr4|NW_004775427.1 | 1 | 1 | Remapped | NW_004775427.1 |
NW_003315917.2 | Chr5|NW_003315917.2 | 6 | 186 | Remapped | NW_003315917.2 |
NW_004775428.1 | Chr5|NW_004775428.1 | 1 | 1 | Remapped | NW_004775428.1 |
NT_113891.2 | Chr6|NT_113891.2 | 14 | 55 | Remapped | NT_113891.2 |
NT_167244.1 | Chr6|NT_167244.1 | 7 | 7 | Remapped | NT_167244.1 |
NT_167245.1 | Chr6|NT_167245.1 | 12 | 53 | Remapped | NT_167245.1 |
NT_167246.1 | Chr6|NT_167246.1 | 11 | 51 | Remapped | NT_167246.1 |
NT_167247.1 | Chr6|NT_167247.1 | 13 | 54 | Remapped | NT_167247.1 |
NT_167248.1 | Chr6|NT_167248.1 | 12 | 53 | Remapped | NT_167248.1 |
NT_167249.1 | Chr6|NT_167249.1 | 14 | 56 | Remapped | NT_167249.1 |
NW_004070866.1 | Chr6|NW_004070866.1 | 1 | 1 | Remapped | NW_004070866.1 |
NW_004504300.1 | Chr6|NW_004504300.1 | 3 | 5 | Remapped | NW_004504300.1 |
NW_003571037.1 | Chr7|NW_003571037.1 | 1 | 1 | Remapped | NW_003571037.1 |
NW_003571039.1 | Chr7|NW_003571039.1 | 2 | 2 | Remapped | NW_003571039.1 |
NW_003571040.1 | Chr7|NW_003571040.1 | 8 | 30 | Remapped | NW_003571040.1 |
NW_003871064.1 | Chr7|NW_003871064.1 | 10 | 39 | Remapped | NW_003871064.1 |
NW_003871065.1 | Chr7|NW_003871065.1 | 3 | 23 | Remapped | NW_003871065.1 |
NW_004775430.1 | Chr7|NW_004775430.1 | 1 | 2 | Remapped | NW_004775430.1 |
NW_003571042.1 | Chr8|NW_003571042.1 | 1 | 3 | Remapped | NW_003571042.1 |
NW_003871066.2 | Chr8|NW_003871066.2 | 1 | 1 | Remapped | NW_003871066.2 |
NW_003315928.1 | Chr9|NW_003315928.1 | 1 | 1 | Remapped | NW_003315928.1 |
NW_003315930.1 | Chr9|NW_003315930.1 | 1 | 1 | Remapped | NW_003315930.1 |
NW_003871067.1 | Chr9|NW_003871067.1 | 2 | 4 | Remapped | NW_003871067.1 |
NW_004070868.1 | Chr9|NW_004070868.1 | 1 | 11 | Remapped | NW_004070868.1 |
NW_004070869.1 | Chr9|NW_004070869.1 | 1 | 1 | Remapped | NW_004070869.1 |
NW_003871068.1 | Chr10|NW_003871068.1 | 10 | 59 | Remapped | NW_003871068.1 |
NW_003871070.1 | Chr10|NW_003871070.1 | 2 | 3 | Remapped | NW_003871070.1 |
NW_003871071.1 | Chr10|NW_003871071.1 | 1 | 2 | Remapped | NW_003871071.1 |
NW_004504302.1 | Chr10|NW_004504302.1 | 1 | 1 | Remapped | NW_004504302.1 |
NW_004775432.1 | Chr10|NW_004775432.1 | 2 | 3 | Remapped | NW_004775432.1 |
NW_003571046.1 | Chr11|NW_003571046.1 | 1 | 1 | Remapped | NW_003571046.1 |
NW_003871072.2 | Chr11|NW_003871072.2 | 1 | 1 | Remapped | NW_003871072.2 |
NW_003871073.1 | Chr11|NW_003871073.1 | 1 | 1 | Remapped | NW_003871073.1 |
NW_003871078.1 | Chr11|NW_003871078.1 | 2 | 17 | Remapped | NW_003871078.1 |
NW_003871080.1 | Chr11|NW_003871080.1 | 1 | 1 | Remapped | NW_003871080.1 |
NW_003871082.1 | Chr11|NW_003871082.1 | 1 | 1 | Remapped | NW_003871082.1 |
NW_003571048.1 | Chr12|NW_003571048.1 | 2 | 3 | Remapped | NW_003571048.1 |
NW_003871083.2 | Chr12|NW_003871083.2 | 1 | 2 | Remapped | NW_003871083.2 |
NW_004166863.1 | Chr14|NW_004166863.1 | 10 | 145 | Remapped | NW_004166863.1 |
NW_003315943.1 | Chr15|NW_003315943.1 | 1 | 3 | Remapped | NW_003315943.1 |
NW_003315945.1 | Chr16|NW_003315945.1 | 1 | 2 | Remapped | NW_003315945.1 |
NT_167251.1 | Chr17|NT_167251.1 | 2 | 41 | Remapped | NT_167251.1 |
NW_003315947.1 | Chr17|NW_003315947.1 | 2 | 3 | Remapped | NW_003315947.1 |
NW_003315948.2 | Chr17|NW_003315948.2 | 1 | 20 | Remapped | NW_003315948.2 |
NW_003315949.1 | Chr17|NW_003315949.1 | 4 | 94 | Remapped | NW_003315949.1 |
NW_003315950.2 | Chr17|NW_003315950.2 | 1 | 2 | Remapped | NW_003315950.2 |
NW_003315955.1 | Chr17|NW_003315955.1 | 1 | 1 | Remapped | NW_003315955.1 |
NW_003571052.1 | Chr17|NW_003571052.1 | 1 | 1 | Remapped | NW_003571052.1 |
NW_003871086.1 | Chr17|NW_003871086.1 | 2 | 28 | Remapped | NW_003871086.1 |
NW_003871089.1 | Chr17|NW_003871089.1 | 1 | 5 | Remapped | NW_003871089.1 |
NW_003315958.1 | Chr18|NW_003315958.1 | 1 | 1 | Remapped | NW_003315958.1 |
NW_003315964.2 | Chr19|NW_003315964.2 | 2 | 3 | Remapped | NW_003315964.2 |
NW_003315965.1 | Chr19|NW_003315965.1 | 1 | 1 | Remapped | NW_003315965.1 |
NW_003571053.2 | Chr19|NW_003571053.2 | 1 | 1 | Remapped | NW_003571053.2 |
NW_003571054.1 | Chr19|NW_003571054.1 | 1 | 1 | Remapped | NW_003571054.1 |
NW_003571055.1 | Chr19|NW_003571055.1 | 1 | 1 | Remapped | NW_003571055.1 |
NW_003571056.1 | Chr19|NW_003571056.1 | 1 | 1 | Remapped | NW_003571056.1 |
NW_003571057.1 | Chr19|NW_003571057.1 | 1 | 1 | Remapped | NW_003571057.1 |
NW_003571058.1 | Chr19|NW_003571058.1 | 1 | 1 | Remapped | NW_003571058.1 |
NW_003571059.1 | Chr19|NW_003571059.1 | 1 | 1 | Remapped | NW_003571059.1 |
NW_003571061.1 | Chr19|NW_003571061.1 | 1 | 1 | Remapped | NW_003571061.1 |
NW_003871094.1 | Chr19|NW_003871094.1 | 4 | 188 | Remapped | NW_003871094.1 |
NW_004166865.1 | Chr19|NW_004166865.1 | 2 | 4 | Remapped | NW_004166865.1 |
NW_003315966.1 | Chr20|NW_003315966.1 | 1 | 1 | Remapped | NW_003315966.1 |
NW_003315971.2 | Chr22|NW_003315971.2 | 1 | 1 | Remapped | NW_003315971.2 |
NW_003871096.1 | Chr22|NW_003871096.1 | 4 | 4 | Remapped | NW_003871096.1 |
Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
---|---|---|---|---|---|
NC_000001.8 | Chr1 | 414 | 1,213 | Submitted | NC_000001.8 |
NC_000002.9 | Chr2 | 413 | 806 | Submitted | NC_000002.9 |
NC_000003.9 | Chr3 | 338 | 606 | Submitted | NC_000003.9 |
NC_000004.9 | Chr4 | 315 | 751 | Submitted | NC_000004.9 |
NC_000005.8 | Chr5 | 347 | 920 | Submitted | NC_000005.8 |
NC_000006.9 | Chr6 | 275 | 584 | Submitted | NC_000006.9 |
NC_000007.11 | Chr7 | 297 | 890 | Submitted | NC_000007.11 |
NC_000008.9 | Chr8 | 259 | 648 | Submitted | NC_000008.9 |
NC_000009.9 | Chr9 | 246 | 556 | Submitted | NC_000009.9 |
NC_000010.8 | Chr10 | 250 | 695 | Submitted | NC_000010.8 |
NC_000011.8 | Chr11 | 233 | 554 | Submitted | NC_000011.8 |
NC_000012.9 | Chr12 | 229 | 503 | Submitted | NC_000012.9 |
NC_000013.9 | Chr13 | 156 | 355 | Submitted | NC_000013.9 |
NC_000014.7 | Chr14 | 157 | 799 | Submitted | NC_000014.7 |
NC_000015.8 | Chr15 | 186 | 720 | Submitted | NC_000015.8 |
NC_000016.8 | Chr16 | 199 | 926 | Submitted | NC_000016.8 |
NC_000017.9 | Chr17 | 221 | 825 | Submitted | NC_000017.9 |
NC_000018.8 | Chr18 | 113 | 273 | Submitted | NC_000018.8 |
NC_000019.8 | Chr19 | 168 | 746 | Submitted | NC_000019.8 |
NC_000020.9 | Chr20 | 132 | 466 | Submitted | NC_000020.9 |
NC_000021.7 | Chr21 | 69 | 284 | Submitted | NC_000021.7 |
NC_000022.8 | Chr22 | 115 | 589 | Submitted | NC_000022.8 |
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_000001.8 | Chr1 | 414 | 380 | 6 | 7 | 0 | 21 | 1,213 | 1,084 | 25 | 35 | 0 | 69 |
NC_000002.9 | Chr2 | 413 | 401 | 4 | 4 | 1 | 3 | 806 | 779 | 5 | 17 | 1 | 4 |
NC_000003.9 | Chr3 | 338 | 331 | 1 | 2 | 0 | 4 | 606 | 575 | 5 | 4 | 0 | 22 |
NC_000004.9 | Chr4 | 315 | 304 | 3 | 0 | 0 | 8 | 751 | 733 | 3 | 0 | 0 | 15 |
NC_000005.8 | Chr5 | 347 | 336 | 2 | 2 | 0 | 7 | 920 | 708 | 2 | 23 | 0 | 187 |
NC_000006.9 | Chr6 | 275 | 251 | 5 | 0 | 0 | 19 | 584 | 484 | 37 | 0 | 0 | 63 |
NC_000007.11 | Chr7 | 297 | 267 | 4 | 3 | 0 | 23 | 890 | 746 | 48 | 3 | 0 | 93 |
NC_000008.9 | Chr8 | 259 | 245 | 7 | 5 | 0 | 2 | 648 | 557 | 17 | 70 | 0 | 4 |
NC_000009.9 | Chr9 | 246 | 218 | 5 | 15 | 3 | 5 | 556 | 480 | 18 | 32 | 9 | 17 |
NC_000010.8 | Chr10 | 250 | 230 | 2 | 2 | 0 | 16 | 695 | 607 | 17 | 3 | 0 | 68 |
NC_000011.8 | Chr11 | 233 | 222 | 0 | 4 | 0 | 7 | 554 | 524 | 0 | 8 | 0 | 22 |
NC_000012.9 | Chr12 | 229 | 225 | 1 | 2 | 0 | 1 | 503 | 497 | 1 | 3 | 0 | 2 |
NC_000013.9 | Chr13 | 156 | 155 | 1 | 0 | 0 | 0 | 355 | 354 | 1 | 0 | 0 | 0 |
NC_000014.7 | Chr14 | 157 | 141 | 4 | 2 | 0 | 10 | 799 | 578 | 74 | 2 | 0 | 145 |
NC_000015.8 | Chr15 | 186 | 176 | 5 | 0 | 4 | 1 | 720 | 583 | 26 | 0 | 108 | 3 |
NC_000016.8 | Chr16 | 199 | 197 | 1 | 0 | 0 | 1 | 926 | 921 | 3 | 0 | 0 | 2 |
NC_000017.9 | Chr17 | 221 | 187 | 13 | 10 | 0 | 11 | 825 | 515 | 88 | 102 | 0 | 120 |
NC_000018.8 | Chr18 | 113 | 112 | 0 | 0 | 0 | 1 | 273 | 272 | 0 | 0 | 0 | 1 |
NC_000019.8 | Chr19 | 168 | 155 | 1 | 3 | 0 | 9 | 746 | 514 | 1 | 37 | 0 | 194 |
NC_000020.9 | Chr20 | 132 | 130 | 1 | 0 | 0 | 1 | 466 | 458 | 7 | 0 | 0 | 1 |
NC_000021.7 | Chr21 | 69 | 67 | 1 | 1 | 0 | 0 | 284 | 274 | 2 | 8 | 0 | 0 |
NC_000022.8 | Chr22 | 115 | 108 | 0 | 2 | 0 | 5 | 589 | 558 | 0 | 26 | 0 | 5 |
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_000001.8 | Chr1 | 414 | 347 | 40 | 8 | 7 | 12 | 1,213 | 1,003 | 112 | 19 | 57 | 22 |
NC_000002.9 | Chr2 | 413 | 360 | 39 | 2 | 1 | 11 | 806 | 686 | 61 | 2 | 1 | 56 |
NC_000003.9 | Chr3 | 338 | 315 | 16 | 1 | 0 | 6 | 606 | 553 | 36 | 1 | 0 | 16 |
NC_000004.9 | Chr4 | 315 | 296 | 11 | 0 | 0 | 8 | 751 | 692 | 43 | 0 | 0 | 16 |
NC_000005.8 | Chr5 | 347 | 317 | 18 | 1 | 0 | 11 | 920 | 671 | 21 | 21 | 0 | 207 |
NC_000006.9 | Chr6 | 275 | 224 | 29 | 2 | 0 | 20 | 584 | 434 | 83 | 2 | 0 | 65 |
NC_000007.11 | Chr7 | 297 | 243 | 35 | 4 | 0 | 15 | 890 | 685 | 108 | 28 | 0 | 69 |
NC_000008.9 | Chr8 | 259 | 225 | 16 | 3 | 0 | 15 | 648 | 452 | 82 | 66 | 0 | 48 |
NC_000009.9 | Chr9 | 246 | 213 | 15 | 10 | 3 | 5 | 556 | 473 | 36 | 36 | 6 | 5 |
NC_000010.8 | Chr10 | 250 | 228 | 15 | 4 | 0 | 3 | 695 | 607 | 52 | 31 | 0 | 5 |
NC_000011.8 | Chr11 | 233 | 200 | 23 | 0 | 0 | 10 | 554 | 475 | 29 | 0 | 0 | 50 |
NC_000012.9 | Chr12 | 229 | 210 | 7 | 0 | 0 | 12 | 503 | 469 | 9 | 0 | 0 | 25 |
NC_000013.9 | Chr13 | 156 | 145 | 7 | 2 | 0 | 2 | 355 | 341 | 10 | 2 | 0 | 2 |
NC_000014.7 | Chr14 | 157 | 128 | 17 | 3 | 0 | 9 | 799 | 494 | 161 | 10 | 0 | 134 |
NC_000015.8 | Chr15 | 186 | 143 | 11 | 5 | 0 | 27 | 720 | 376 | 43 | 46 | 0 | 255 |
NC_000016.8 | Chr16 | 199 | 178 | 7 | 2 | 0 | 12 | 926 | 753 | 63 | 27 | 0 | 83 |
NC_000017.9 | Chr17 | 221 | 168 | 28 | 6 | 0 | 19 | 825 | 433 | 161 | 107 | 0 | 124 |
NC_000018.8 | Chr18 | 113 | 98 | 8 | 1 | 0 | 6 | 273 | 252 | 9 | 6 | 0 | 6 |
NC_000019.8 | Chr19 | 168 | 138 | 22 | 0 | 0 | 8 | 746 | 559 | 176 | 0 | 0 | 11 |
NC_000020.9 | Chr20 | 132 | 120 | 11 | 0 | 0 | 1 | 466 | 449 | 16 | 0 | 0 | 1 |
NC_000021.7 | Chr21 | 69 | 43 | 24 | 0 | 0 | 2 | 284 | 182 | 96 | 0 | 0 | 6 |
NC_000022.8 | Chr22 | 115 | 76 | 33 | 3 | 0 | 3 | 589 | 304 | 261 | 10 | 0 | 14 |
Samplesets
Number of Samplesets: 1
- Sampleset Type:
- Control
- Description:
- These samples included 16 from healthy blood donors, 51 from a British Columbia Cancer Agency (BCCA) screening program, and 26 B-lymphoblast DNA samples encompassing 16 distinct ethnic groups from the Human Variation Collection and 14 CEPH pedigree samples from the Coriell Cell Repository.
- Size:
- 95
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
Sample ID | Cell Type | Subject ID | Sex | Ethnicity | Subject Age | Subject Phenotype |
---|---|---|---|---|---|---|
NA17361 | B-lymphocyte | GM17361 | Male | Ashkenazi Jewish | Not reported | |
NA10471 | B-lymphocyte | GM10471 | Female | Biaka | Not reported | |
NA10492 | B-lymphocyte | GM10492 | Male | Mbuti | Not reported | |
S69 | Whole Blood | S69 | Female | ethnicity unknown | Not reported | |
NA11522 | B-lymphocyte | GM11522 | Male | Druze | Not reported | |
S29 | Whole Blood | S29 | Male | ethnicity unknown | Not reported | |
S26 | Whole Blood | S26 | Male | ethnicity unknown | Not reported | |
S33 | Whole Blood | S33 | Male | ethnicity unknown | Not reported | |
NA11587 | B-lymphocyte | GM11587 | Male | Japanese | Not reported | |
S19 | Whole Blood | S19 | Male | ethnicity unknown | Not reported | |
S24 | Whole Blood | S24 | Male | ethnicity unknown | Not reported | |
NA15766 | B-lymphocyte | GM15766 | Female | Icelandic | Not reported | |
NA17076 | B-lymphocyte | GM17076 | Female | Puerto Rican | Not reported | |
NA13613 | B-lymphocyte | GM13613 | Male | Taiwan Ami tribe | Not reported | |
S65 | Whole Blood | S65 | Female | ethnicity unknown | Not reported | |
NA17392 | B-lymphocyte | GM17392 | Male | Mexican Indian | Not reported | |
NA17766 | B-lymphocyte | GM17766 | Female | Han of Los Angeles | Not reported | |
S86 | Whole Blood | S86 | Female | ethnicity unknown | Not reported | |
NA11917 | B-lymphocyte | GM11917 | Male | European Utah | 66 Years | Not reported |
S79 | Whole Blood | S79 | Female | ethnicity unknown | Not reported | |
S25 | Whole Blood | S25 | Male | ethnicity unknown | Not reported | |
NA11521 | B-lymphocyte | GM11521 | Female | Druze | Not reported | |
NA11920 | B-lymphocyte | GM11920 | Female | European Utah | 66 Years | Not reported |
S60 | Whole Blood | S60 | Female | ethnicity unknown | Not reported | |
NA15724 | B-lymphocyte | GM15724 | Male | Czechoslovakian | Not reported | |
S83 | Whole Blood | S83 | Female | ethnicity unknown | Not reported | |
NA10975 | B-lymphocyte | GM10975 | Male | Mayan | Not reported | |
S88 | Whole Blood | S88 | Female | ethnicity unknown | Not reported | |
NA15760 | B-lymphocyte | GM15760 | Male | Iceland | Not reported | |
S70 | Whole Blood | S70 | Female | ethnicity unknown | Not reported | |
S63 | Whole Blood | S63 | Female | ethnicity unknown | Not reported | |
S36 | Whole Blood | S36 | Male | ethnicity unknown | Not reported | |
NA17075 | B-lymphocyte | GM17075 | Male | Puerto Rican | Not reported | |
NA13603 | B-lymphocyte | GM13603 | Male | Taiwan Atayal tribe | Not reported | |
NA17348 | B-lymphocyte | GM17348 | Female | African South of Sahara | Not reported | |
S51 | Whole Blood | S51 | Female | ethnicity unknown | Not reported | |
S32 | Whole Blood | S32 | Male | ethnicity unknown | Not reported | |
S21 | Whole Blood | S21 | Male | ethnicity unknown | Not reported | |
S52 | Whole Blood | S52 | Female | ethnicity unknown | Not reported | |
S31 | Whole Blood | S31 | Male | ethnicity unknown | Not reported | |
S30 | Whole Blood | S30 | Male | ethnicity unknown | Not reported | |
S53 | Whole Blood | S53 | Female | ethnicity unknown | Not reported | |
S50 | Whole Blood | S50 | Female | ethnicity unknown | Not reported | |
S20 | Whole Blood | S20 | Male | ethnicity unknown | Not reported | |
NA13606 | B-lymphocyte | GM13606 | Male | Taiwan Atayal tribe | Not reported | |
S78 | Whole Blood | S78 | Female | ethnicity unknown | Not reported | |
NA10469 | B-lymphocyte | GM10469 | Male | Biaka | Not reported | |
NA17384 | B-lymphocyte | GM17384 | Male | African North of Sahara | Not reported | |
S72 | Whole Blood | S72 | Female | ethnicity unknown | Not reported | |
NA17755 | B-lymphocyte | GM17755 | Male | Han of L.A. | Not reported | |
S23 | Whole Blood | S23 | Male | ethnicity unknown | Not reported | |
S71 | Whole Blood | S71 | Female | ethnicity unknown | Not reported | |
S64 | Whole Blood | S64 | Female | ethnicity unknown | Not reported | |
NA11919 | B-lymphocyte | GM11919 | Male | European Utah | 67 Years | Not reported |
S49 | Whole Blood | S49 | Female | ethnicity unknown | Not reported | |
NA13611 | B-lymphocyte | GM13611 | Male | Taiwan Ami tribe | Not reported | |
S22 | Whole Blood | S22 | Male | ethnicity unknown | Not reported | |
S73 | Whole Blood | S73 | Female | ethnicity unknown | Not reported | |
S68 | Whole Blood | S68 | Female | ethnicity unknown | Not reported | |
S47 | Whole Blood | S47 | Female | ethnicity unknown | Not reported | |
S85 | Whole Blood | S85 | Female | ethnicity unknown | Not reported | |
S66 | Whole Blood | S66 | Female | ethnicity unknown | Not reported | |
S57 | Whole Blood | S57 | Female | ethnicity unknown | Not reported | |
S74 | Whole Blood | S74 | Male | ethnicity unknown | Not reported | |
S46 | Whole Blood | S46 | Female | ethnicity unknown | Not reported | |
S62 | Whole Blood | S62 | Female | ethnicity unknown | Not reported | |
NA11918 | B-lymphocyte | GM11918 | Female | European Utah | 64 Years | Not reported |
S58 | Whole Blood | S58 | Female | ethnicity unknown | Not reported | |
S59 | Whole Blood | S59 | Female | ethnicity unknown | Not reported | |
S27 | Whole Blood | S27 | Male | ethnicity unknown | Not reported | |
NA17393 | B-lymphocyte | GM17393 | Female | Mexican Indian | Not reported | |
S84 | Whole Blood | S84 | Female | ethnicity unknown | Not reported | |
S81 | Whole Blood | S81 | Female | ethnicity unknown | Not reported | |
S67 | Whole Blood | S67 | Female | ethnicity unknown | Not reported | |
S28 | Whole Blood | S28 | Male | ethnicity unknown | Not reported | |
S76 | Whole Blood | S76 | Female | ethnicity unknown | Not reported | |
S82 | Whole Blood | S82 | Female | ethnicity unknown | Not reported | |
NA15729 | B-lymphocyte | GM15729 | Female | Czechoslovakian | Not reported | |
S75 | Whole Blood | S75 | Female | ethnicity unknown | Not reported | |
S56 | Whole Blood | S56 | Female | ethnicity unknown | Not reported | |
S80 | Whole Blood | S80 | Female | ethnicity unknown | Not reported | |
S45 | Whole Blood | S45 | Female | ethnicity unknown | Not reported | |
S48 | Whole Blood | S48 | Female | ethnicity unknown | Not reported | |
S90 | Whole Blood | S90 | Female | ethnicity unknown | Not reported | |
NA10540 | B-lymphocyte | GM10540 | Male | Melanesian | Not reported | |
S55 | Whole Blood | S55 | Female | ethnicity unknown | Not reported | |
S18 | Whole Blood | S18 | Male | ethnicity unknown | Not reported | |
NA10539 | B-lymphocyte | GM10539 | Female | Melanesian | Not reported | |
S54 | Whole Blood | S54 | Female | ethnicity unknown | Not reported | |
S87 | Whole Blood | S87 | Female | ethnicity unknown | Not reported | |
S61 | Whole Blood | S61 | Female | ethnicity unknown | Not reported | |
S34 | Whole Blood | S34 | Male | ethnicity unknown | Not reported | |
S91 | Whole Blood | S91 | Female | ethnicity unknown | Not reported | |
S89 | Whole Blood | S89 | Female | ethnicity unknown | Not reported | |
S35 | Whole Blood | S35 | Male | ethnicity unknown | Not reported |
Experimental Details
Experiment ID | Type | Method | Analysis | Platforms | Number of Variant Calls |
---|---|---|---|---|---|
1 | Discovery | BAC aCGH | Probe signal intensity | GPL2616 | 14,709 |