nstd12 (Marshall et al. 2008)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Christian Marshall
- Submitter URL:
- http://projects.tcag.ca/autism_500k/
- Description:
- SNP array and karyotyping were used to assess structural abnormalities in 427 unrelated ASD cases. See Variant Summary counts for nstd12 in dbVar Variant Summary.
- Publication(s):
- Marshall et al. 2008
Detailed Information: Download 2290 Variant Regions, Download 3396 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 | 142 | 162 | Remapped | NC_000001.11 |
| NC_000002.12 | Chr2 | 145 | 172 | Remapped | NC_000002.12 |
| NC_000003.12 | Chr3 | 124 | 153 | Remapped | NC_000003.12 |
| NC_000004.12 | Chr4 | 111 | 133 | Remapped | NC_000004.12 |
| NC_000005.10 | Chr5 | 92 | 117 | Remapped | NC_000005.10 |
| NC_000006.12 | Chr6 | 119 | 160 | Remapped | NC_000006.12 |
| NC_000007.14 | Chr7 | 138 | 207 | Remapped | NC_000007.14 |
| NC_000008.11 | Chr8 | 95 | 127 | Remapped | NC_000008.11 |
| NC_000009.12 | Chr9 | 104 | 112 | Remapped | NC_000009.12 |
| NC_000010.11 | Chr10 | 115 | 171 | Remapped | NC_000010.11 |
| NC_000011.10 | Chr11 | 87 | 118 | Remapped | NC_000011.10 |
| NC_000012.12 | Chr12 | 82 | 94 | Remapped | NC_000012.12 |
| NC_000013.11 | Chr13 | 50 | 55 | Remapped | NC_000013.11 |
| NC_000014.9 | Chr14 | 189 | 420 | Remapped | NC_000014.9 |
| NC_000015.10 | Chr15 | 125 | 309 | Remapped | NC_000015.10 |
| NC_000016.10 | Chr16 | 86 | 113 | Remapped | NC_000016.10 |
| NC_000017.11 | Chr17 | 148 | 380 | Remapped | NC_000017.11 |
| NC_000018.10 | Chr18 | 47 | 48 | Remapped | NC_000018.10 |
| NC_000019.10 | Chr19 | 58 | 63 | Remapped | NC_000019.10 |
| NC_000020.11 | Chr20 | 41 | 43 | Remapped | NC_000020.11 |
| NC_000021.9 | Chr21 | 14 | 15 | Remapped | NC_000021.9 |
| NC_000022.11 | Chr22 | 73 | 83 | Remapped | NC_000022.11 |
| NC_000023.11 | ChrX | 94 | 113 | Remapped | NC_000023.11 |
| NT_187515.1 | Chr1|NT_187515.1 | 1 | 1 | Remapped | NT_187515.1 |
| NW_014040926.1 | Chr1|NW_014040926.1 | 1 | 1 | Remapped | NW_014040926.1 |
| NW_017852928.1 | Chr1|NW_017852928.1 | 1 | 1 | Remapped | NW_017852928.1 |
| NT_187523.1 | Chr2|NT_187523.1 | 4 | 15 | Remapped | NT_187523.1 |
| NT_187647.1 | Chr2|NT_187647.1 | 4 | 15 | Remapped | NT_187647.1 |
| NW_012132915.1 | Chr2|NW_012132915.1 | 1 | 1 | Remapped | NW_012132915.1 |
| NT_187678.1 | Chr3|NT_187678.1 | 9 | 20 | Remapped | NT_187678.1 |
| NT_187688.1 | Chr3|NT_187688.1 | 8 | 19 | Remapped | NT_187688.1 |
| NT_187689.1 | Chr3|NT_187689.1 | 8 | 19 | Remapped | NT_187689.1 |
| NT_187690.1 | Chr3|NT_187690.1 | 8 | 19 | Remapped | NT_187690.1 |
| NT_187691.1 | Chr3|NT_187691.1 | 8 | 19 | Remapped | NT_187691.1 |
| NT_187532.1 | Chr3|NT_187532.1 | 8 | 19 | Remapped | NT_187532.1 |
| NT_187539.1 | Chr3|NT_187539.1 | 1 | 1 | Remapped | NT_187539.1 |
| NT_187649.1 | Chr3|NT_187649.1 | 8 | 19 | Remapped | NT_187649.1 |
| NW_019805488.1 | Chr3|NW_019805488.1 | 1 | 1 | Remapped | NW_019805488.1 |
| NT_187679.1 | Chr4|NT_187679.1 | 1 | 1 | Remapped | NT_187679.1 |
| NT_187542.1 | Chr4|NT_187542.1 | 1 | 1 | Remapped | NT_187542.1 |
| NT_187545.1 | Chr4|NT_187545.1 | 2 | 2 | Remapped | NT_187545.1 |
| NW_003315914.1 | Chr4|NW_003315914.1 | 1 | 1 | Remapped | NW_003315914.1 |
| NT_187546.1 | Chr5|NT_187546.1 | 1 | 1 | Remapped | NT_187546.1 |
| NT_187551.1 | Chr5|NT_187551.1 | 1 | 1 | Remapped | NT_187551.1 |
| NT_187652.1 | Chr5|NT_187652.1 | 1 | 1 | Remapped | NT_187652.1 |
| NT_167246.2 | Chr6|NT_167246.2 | 16 | 19 | Remapped | NT_167246.2 |
| NT_167247.2 | Chr6|NT_167247.2 | 11 | 11 | Remapped | NT_167247.2 |
| NT_167248.2 | Chr6|NT_167248.2 | 15 | 18 | Remapped | NT_167248.2 |
| NT_167249.2 | Chr6|NT_167249.2 | 17 | 20 | Remapped | NT_167249.2 |
| NT_167245.2 | Chr6|NT_167245.2 | 12 | 14 | Remapped | NT_167245.2 |
| NT_113891.3 | Chr6|NT_113891.3 | 17 | 20 | Remapped | NT_113891.3 |
| NT_167244.2 | Chr6|NT_167244.2 | 8 | 10 | Remapped | NT_167244.2 |
| NT_187553.1 | Chr6|NT_187553.1 | 1 | 1 | Remapped | NT_187553.1 |
| NW_018654713.1 | Chr6|NW_018654713.1 | 1 | 1 | Remapped | NW_018654713.1 |
| NT_187558.1 | Chr7|NT_187558.1 | 7 | 9 | Remapped | NT_187558.1 |
| NT_187562.1 | Chr7|NT_187562.1 | 7 | 7 | Remapped | NT_187562.1 |
| NT_187653.1 | Chr7|NT_187653.1 | 7 | 9 | Remapped | NT_187653.1 |
| NW_012132919.1 | Chr7|NW_012132919.1 | 1 | 1 | Remapped | NW_012132919.1 |
| NT_187568.1 | Chr8|NT_187568.1 | 1 | 1 | Remapped | NT_187568.1 |
| NT_187570.1 | Chr8|NT_187570.1 | 1 | 15 | Remapped | NT_187570.1 |
| NT_187576.1 | Chr8|NT_187576.1 | 2 | 2 | Remapped | NT_187576.1 |
| NT_187655.1 | Chr8|NT_187655.1 | 1 | 1 | Remapped | NT_187655.1 |
| NW_018654717.1 | Chr8|NW_018654717.1 | 9 | 30 | Remapped | NW_018654717.1 |
| NW_003315928.1 | Chr9|NW_003315928.1 | 4 | 4 | Remapped | NW_003315928.1 |
| NW_003315934.1 | Chr10|NW_003315934.1 | 5 | 5 | Remapped | NW_003315934.1 |
| NW_003315935.1 | Chr10|NW_003315935.1 | 1 | 1 | Remapped | NW_003315935.1 |
| NT_187587.1 | Chr12|NT_187587.1 | 17 | 27 | Remapped | NT_187587.1 |
| NW_018654718.1 | Chr12|NW_018654718.1 | 2 | 2 | Remapped | NW_018654718.1 |
| NT_187598.1 | Chr14|NT_187598.1 | 1 | 1 | Remapped | NT_187598.1 |
| NT_187600.1 | Chr14|NT_187600.1 | 16 | 17 | Remapped | NT_187600.1 |
| NT_187660.1 | Chr15|NT_187660.1 | 10 | 10 | Remapped | NT_187660.1 |
| NW_011332701.1 | Chr15|NW_011332701.1 | 10 | 10 | Remapped | NW_011332701.1 |
| NT_187608.1 | Chr16|NT_187608.1 | 1 | 1 | Remapped | NT_187608.1 |
| NT_187610.1 | Chr16|NT_187610.1 | 1 | 1 | Remapped | NT_187610.1 |
| NW_003315945.1 | Chr16|NW_003315945.1 | 1 | 1 | Remapped | NW_003315945.1 |
| NW_012132921.1 | Chr16|NW_012132921.1 | 1 | 1 | Remapped | NW_012132921.1 |
| NW_017852933.1 | Chr16|NW_017852933.1 | 3 | 3 | Remapped | NW_017852933.1 |
| NT_187661.1 | Chr17|NT_187661.1 | 18 | 60 | Remapped | NT_187661.1 |
| NT_187663.1 | Chr17|NT_187663.1 | 10 | 35 | Remapped | NT_187663.1 |
| NT_167251.2 | Chr17|NT_167251.2 | 7 | 8 | Remapped | NT_167251.2 |
| NT_187614.1 | Chr17|NT_187614.1 | 18 | 60 | Remapped | NT_187614.1 |
| NT_187615.1 | Chr17|NT_187615.1 | 1 | 1 | Remapped | NT_187615.1 |
| NT_187665.1 | Chr18|NT_187665.1 | 1 | 1 | Remapped | NT_187665.1 |
| NW_003315956.1 | Chr18|NW_003315956.1 | 1 | 1 | Remapped | NW_003315956.1 |
| NW_003315958.1 | Chr18|NW_003315958.1 | 1 | 1 | Remapped | NW_003315958.1 |
| NW_019805503.1 | Chr18|NW_019805503.1 | 3 | 3 | Remapped | NW_019805503.1 |
| NT_187693.1 | Chr19|NT_187693.1 | 8 | 9 | Remapped | NT_187693.1 |
| NW_003571060.1 | Chr19|NW_003571060.1 | 1 | 1 | Remapped | NW_003571060.1 |
| NW_003315962.1 | Chr19|NW_003315962.1 | 2 | 2 | Remapped | NW_003315962.1 |
| NW_003571054.1 | Chr19|NW_003571054.1 | 1 | 1 | Remapped | NW_003571054.1 |
| NT_187629.1 | Chr22|NT_187629.1 | 3 | 3 | Remapped | NT_187629.1 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.10 | Chr1 | 143 | 163 | Remapped | NC_000001.10 |
| NC_000002.11 | Chr2 | 145 | 172 | Remapped | NC_000002.11 |
| NC_000003.11 | Chr3 | 127 | 156 | Remapped | NC_000003.11 |
| NC_000004.11 | Chr4 | 111 | 133 | Remapped | NC_000004.11 |
| NC_000005.9 | Chr5 | 92 | 117 | Remapped | NC_000005.9 |
| NC_000006.11 | Chr6 | 119 | 160 | Remapped | NC_000006.11 |
| NC_000007.13 | Chr7 | 135 | 204 | Remapped | NC_000007.13 |
| NC_000008.10 | Chr8 | 95 | 127 | Remapped | NC_000008.10 |
| NC_000009.11 | Chr9 | 107 | 131 | Remapped | NC_000009.11 |
| NC_000010.10 | Chr10 | 115 | 171 | Remapped | NC_000010.10 |
| NC_000011.9 | Chr11 | 87 | 118 | Remapped | NC_000011.9 |
| NC_000012.11 | Chr12 | 82 | 94 | Remapped | NC_000012.11 |
| NC_000013.10 | Chr13 | 50 | 55 | Remapped | NC_000013.10 |
| NC_000014.8 | Chr14 | 189 | 420 | Remapped | NC_000014.8 |
| NC_000015.9 | Chr15 | 125 | 309 | Remapped | NC_000015.9 |
| NC_000016.9 | Chr16 | 84 | 111 | Remapped | NC_000016.9 |
| NC_000017.10 | Chr17 | 143 | 361 | Remapped | NC_000017.10 |
| NC_000018.9 | Chr18 | 47 | 48 | Remapped | NC_000018.9 |
| NC_000019.9 | Chr19 | 58 | 63 | Remapped | NC_000019.9 |
| NC_000020.10 | Chr20 | 41 | 43 | Remapped | NC_000020.10 |
| NC_000021.8 | Chr21 | 14 | 15 | Remapped | NC_000021.8 |
| NC_000022.10 | Chr22 | 73 | 83 | Remapped | NC_000022.10 |
| NC_000023.10 | ChrX | 93 | 112 | Remapped | NC_000023.10 |
| NW_003871055.3 | Chr1|NW_003871055.3 | 6 | 6 | Remapped | NW_003871055.3 |
| NW_003871056.3 | Chr1|NW_003871056.3 | 3 | 3 | Remapped | NW_003871056.3 |
| NW_003315914.1 | Chr4|NW_003315914.1 | 1 | 1 | Remapped | NW_003315914.1 |
| NW_004775427.1 | Chr4|NW_004775427.1 | 1 | 1 | Remapped | NW_004775427.1 |
| NT_113891.2 | Chr6|NT_113891.2 | 17 | 20 | Remapped | NT_113891.2 |
| NT_167244.1 | Chr6|NT_167244.1 | 8 | 10 | Remapped | NT_167244.1 |
| NT_167245.1 | Chr6|NT_167245.1 | 12 | 14 | Remapped | NT_167245.1 |
| NT_167246.1 | Chr6|NT_167246.1 | 16 | 19 | Remapped | NT_167246.1 |
| NT_167247.1 | Chr6|NT_167247.1 | 11 | 11 | Remapped | NT_167247.1 |
| NT_167248.1 | Chr6|NT_167248.1 | 15 | 18 | Remapped | NT_167248.1 |
| NT_167249.1 | Chr6|NT_167249.1 | 17 | 20 | Remapped | NT_167249.1 |
| NW_003871063.1 | Chr6|NW_003871063.1 | 4 | 6 | Remapped | NW_003871063.1 |
| NW_003571040.1 | Chr7|NW_003571040.1 | 7 | 7 | Remapped | NW_003571040.1 |
| NW_003871064.1 | Chr7|NW_003871064.1 | 1 | 1 | Remapped | NW_003871064.1 |
| NW_003571042.1 | Chr8|NW_003571042.1 | 2 | 2 | Remapped | NW_003571042.1 |
| NW_003315928.1 | Chr9|NW_003315928.1 | 4 | 4 | Remapped | NW_003315928.1 |
| NW_003315934.1 | Chr10|NW_003315934.1 | 5 | 5 | Remapped | NW_003315934.1 |
| NW_003315935.1 | Chr10|NW_003315935.1 | 1 | 1 | Remapped | NW_003315935.1 |
| NW_003871068.1 | Chr10|NW_003871068.1 | 15 | 42 | Remapped | NW_003871068.1 |
| NW_003871069.1 | Chr10|NW_003871069.1 | 1 | 1 | Remapped | NW_003871069.1 |
| NW_003871071.1 | Chr10|NW_003871071.1 | 1 | 1 | Remapped | NW_003871071.1 |
| NW_004504302.1 | Chr10|NW_004504302.1 | 1 | 1 | Remapped | NW_004504302.1 |
| NW_004775432.1 | Chr10|NW_004775432.1 | 1 | 1 | Remapped | NW_004775432.1 |
| NW_003871075.1 | Chr11|NW_003871075.1 | 1 | 1 | Remapped | NW_003871075.1 |
| NW_004166863.1 | Chr14|NW_004166863.1 | 8 | 8 | Remapped | NW_004166863.1 |
| NW_003315945.1 | Chr16|NW_003315945.1 | 1 | 1 | Remapped | NW_003315945.1 |
| NT_167251.1 | Chr17|NT_167251.1 | 18 | 63 | Remapped | NT_167251.1 |
| NW_003315949.1 | Chr17|NW_003315949.1 | 17 | 59 | Remapped | NW_003315949.1 |
| NW_003315950.2 | Chr17|NW_003315950.2 | 4 | 4 | Remapped | NW_003315950.2 |
| NW_003871086.1 | Chr17|NW_003871086.1 | 33 | 110 | Remapped | NW_003871086.1 |
| NW_003315956.1 | Chr18|NW_003315956.1 | 1 | 1 | Remapped | NW_003315956.1 |
| NW_003315958.1 | Chr18|NW_003315958.1 | 1 | 1 | Remapped | NW_003315958.1 |
| NW_003315962.1 | Chr19|NW_003315962.1 | 2 | 2 | Remapped | NW_003315962.1 |
| NW_004166865.1 | Chr19|NW_004166865.1 | 7 | 8 | Remapped | NW_004166865.1 |
| NW_003871098.1 | ChrX|NW_003871098.1 | 1 | 1 | Remapped | NW_003871098.1 |
| NW_003871099.1 | ChrX|NW_003871099.1 | 3 | 15 | Remapped | NW_003871099.1 |
| NW_003871103.3 | ChrX|NW_003871103.3 | 2 | 2 | Remapped | NW_003871103.3 |
| NW_004070877.1 | ChrX|NW_004070877.1 | 1 | 1 | Remapped | NW_004070877.1 |
| NW_004070878.1 | ChrX|NW_004070878.1 | 1 | 1 | Remapped | NW_004070878.1 |
| NW_004070880.2 | ChrX|NW_004070880.2 | 2 | 4 | Remapped | NW_004070880.2 |
| NW_004070887.1 | ChrX|NW_004070887.1 | 1 | 1 | Remapped | NW_004070887.1 |
| NW_004070888.1 | ChrX|NW_004070888.1 | 2 | 2 | Remapped | NW_004070888.1 |
| NW_004070889.1 | ChrX|NW_004070889.1 | 1 | 1 | Remapped | NW_004070889.1 |
| NW_004070890.2 | ChrX|NW_004070890.2 | 6 | 6 | Remapped | NW_004070890.2 |
| NW_004070891.1 | ChrX|NW_004070891.1 | 1 | 1 | Remapped | NW_004070891.1 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.8 | Chr1 | 143 | 163 | Submitted | NC_000001.8 |
| NC_000002.9 | Chr2 | 145 | 172 | Submitted | NC_000002.9 |
| NC_000003.9 | Chr3 | 127 | 156 | Submitted | NC_000003.9 |
| NC_000004.9 | Chr4 | 111 | 133 | Submitted | NC_000004.9 |
| NC_000005.8 | Chr5 | 92 | 117 | Submitted | NC_000005.8 |
| NC_000006.9 | Chr6 | 119 | 160 | Submitted | NC_000006.9 |
| NC_000007.11 | Chr7 | 136 | 205 | Submitted | NC_000007.11 |
| NC_000008.9 | Chr8 | 95 | 127 | Submitted | NC_000008.9 |
| NC_000009.9 | Chr9 | 108 | 132 | Submitted | NC_000009.9 |
| NC_000010.8 | Chr10 | 115 | 171 | Submitted | NC_000010.8 |
| NC_000011.8 | Chr11 | 87 | 118 | Submitted | NC_000011.8 |
| NC_000012.9 | Chr12 | 82 | 94 | Submitted | NC_000012.9 |
| NC_000013.9 | Chr13 | 50 | 55 | Submitted | NC_000013.9 |
| NC_000014.7 | Chr14 | 189 | 420 | Submitted | NC_000014.7 |
| NC_000015.8 | Chr15 | 125 | 309 | Submitted | NC_000015.8 |
| NC_000016.8 | Chr16 | 84 | 111 | Submitted | NC_000016.8 |
| NC_000017.9 | Chr17 | 148 | 380 | Submitted | NC_000017.9 |
| NC_000018.8 | Chr18 | 47 | 48 | Submitted | NC_000018.8 |
| NC_000019.8 | Chr19 | 65 | 71 | Submitted | NC_000019.8 |
| NC_000020.9 | Chr20 | 41 | 43 | Submitted | NC_000020.9 |
| NC_000021.7 | Chr21 | 14 | 15 | Submitted | NC_000021.7 |
| NC_000022.8 | Chr22 | 73 | 83 | Submitted | NC_000022.8 |
| NC_000023.8 | ChrX | 94 | 113 | Submitted | NC_000023.8 |
| 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 | 143 | 114 | 4 | 16 | 0 | 9 | 163 | 121 | 4 | 29 | 0 | 9 |
| NC_000002.9 | Chr2 | 145 | 130 | 3 | 12 | 0 | 0 | 172 | 151 | 6 | 15 | 0 | 0 |
| NC_000003.9 | Chr3 | 127 | 107 | 20 | 0 | 0 | 0 | 156 | 124 | 32 | 0 | 0 | 0 |
| NC_000004.9 | Chr4 | 111 | 103 | 2 | 4 | 0 | 2 | 133 | 125 | 2 | 4 | 0 | 2 |
| NC_000005.8 | Chr5 | 92 | 91 | 1 | 0 | 0 | 0 | 117 | 116 | 1 | 0 | 0 | 0 |
| NC_000006.9 | Chr6 | 119 | 99 | 2 | 1 | 0 | 17 | 160 | 137 | 2 | 1 | 0 | 20 |
| NC_000007.11 | Chr7 | 136 | 122 | 2 | 5 | 0 | 7 | 205 | 191 | 2 | 5 | 0 | 7 |
| NC_000008.9 | Chr8 | 95 | 77 | 11 | 5 | 0 | 2 | 127 | 109 | 11 | 5 | 0 | 2 |
| NC_000009.9 | Chr9 | 108 | 89 | 0 | 14 | 1 | 4 | 132 | 91 | 0 | 36 | 1 | 4 |
| NC_000010.8 | Chr10 | 115 | 81 | 0 | 9 | 0 | 25 | 171 | 102 | 0 | 17 | 0 | 52 |
| NC_000011.8 | Chr11 | 87 | 84 | 1 | 1 | 0 | 1 | 118 | 115 | 1 | 1 | 0 | 1 |
| NC_000012.9 | Chr12 | 82 | 81 | 1 | 0 | 0 | 0 | 94 | 93 | 1 | 0 | 0 | 0 |
| NC_000013.9 | Chr13 | 50 | 49 | 0 | 1 | 0 | 0 | 55 | 54 | 0 | 1 | 0 | 0 |
| NC_000014.7 | Chr14 | 189 | 176 | 0 | 5 | 0 | 8 | 420 | 407 | 0 | 5 | 0 | 8 |
| NC_000015.8 | Chr15 | 125 | 58 | 6 | 61 | 0 | 0 | 309 | 75 | 7 | 227 | 0 | 0 |
| NC_000016.8 | Chr16 | 84 | 80 | 2 | 1 | 0 | 1 | 111 | 107 | 2 | 1 | 0 | 1 |
| NC_000017.9 | Chr17 | 148 | 36 | 33 | 13 | 0 | 66 | 380 | 50 | 100 | 27 | 0 | 203 |
| NC_000018.8 | Chr18 | 47 | 43 | 2 | 0 | 0 | 2 | 48 | 44 | 2 | 0 | 0 | 2 |
| NC_000019.8 | Chr19 | 65 | 55 | 7 | 1 | 0 | 2 | 71 | 60 | 8 | 1 | 0 | 2 |
| NC_000020.9 | Chr20 | 41 | 40 | 1 | 0 | 0 | 0 | 43 | 41 | 2 | 0 | 0 | 0 |
| NC_000021.7 | Chr21 | 14 | 14 | 0 | 0 | 0 | 0 | 15 | 15 | 0 | 0 | 0 | 0 |
| NC_000022.8 | Chr22 | 73 | 66 | 5 | 2 | 0 | 0 | 83 | 75 | 6 | 2 | 0 | 0 |
| NC_000023.8 | ChrX | 94 | 56 | 13 | 5 | 0 | 20 | 113 | 61 | 13 | 5 | 0 | 34 |
| 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 | 143 | 105 | 12 | 20 | 1 | 5 | 163 | 106 | 17 | 34 | 1 | 5 |
| NC_000002.9 | Chr2 | 145 | 122 | 9 | 9 | 0 | 5 | 172 | 131 | 13 | 12 | 0 | 16 |
| NC_000003.9 | Chr3 | 127 | 101 | 13 | 1 | 2 | 10 | 156 | 118 | 14 | 1 | 2 | 21 |
| NC_000004.9 | Chr4 | 111 | 100 | 3 | 3 | 0 | 5 | 133 | 122 | 3 | 3 | 0 | 5 |
| NC_000005.8 | Chr5 | 92 | 85 | 5 | 0 | 0 | 2 | 117 | 110 | 5 | 0 | 0 | 2 |
| NC_000006.9 | Chr6 | 119 | 98 | 2 | 0 | 0 | 19 | 160 | 136 | 2 | 0 | 0 | 22 |
| NC_000007.11 | Chr7 | 136 | 107 | 9 | 5 | 0 | 15 | 205 | 173 | 10 | 5 | 0 | 17 |
| NC_000008.9 | Chr8 | 95 | 66 | 11 | 5 | 0 | 13 | 127 | 77 | 11 | 5 | 0 | 34 |
| NC_000009.9 | Chr9 | 108 | 91 | 0 | 9 | 4 | 4 | 132 | 93 | 0 | 15 | 20 | 4 |
| NC_000010.8 | Chr10 | 115 | 86 | 8 | 15 | 0 | 6 | 171 | 107 | 16 | 42 | 0 | 6 |
| NC_000011.8 | Chr11 | 87 | 81 | 5 | 1 | 0 | 0 | 118 | 112 | 5 | 1 | 0 | 0 |
| NC_000012.9 | Chr12 | 82 | 62 | 1 | 0 | 0 | 19 | 94 | 64 | 1 | 0 | 0 | 29 |
| NC_000013.9 | Chr13 | 50 | 46 | 1 | 3 | 0 | 0 | 55 | 51 | 1 | 3 | 0 | 0 |
| NC_000014.7 | Chr14 | 189 | 72 | 91 | 9 | 0 | 17 | 420 | 279 | 102 | 21 | 0 | 18 |
| NC_000015.8 | Chr15 | 125 | 48 | 8 | 59 | 0 | 10 | 309 | 65 | 9 | 225 | 0 | 10 |
| NC_000016.8 | Chr16 | 84 | 72 | 3 | 2 | 0 | 7 | 111 | 99 | 3 | 2 | 0 | 7 |
| NC_000017.9 | Chr17 | 148 | 52 | 65 | 2 | 0 | 29 | 380 | 119 | 163 | 2 | 0 | 96 |
| NC_000018.8 | Chr18 | 47 | 39 | 3 | 0 | 0 | 5 | 48 | 40 | 3 | 0 | 0 | 5 |
| NC_000019.8 | Chr19 | 65 | 59 | 2 | 1 | 0 | 3 | 71 | 65 | 2 | 1 | 0 | 3 |
| NC_000020.9 | Chr20 | 41 | 37 | 4 | 0 | 0 | 0 | 43 | 38 | 5 | 0 | 0 | 0 |
| NC_000021.7 | Chr21 | 14 | 8 | 6 | 0 | 0 | 0 | 15 | 9 | 6 | 0 | 0 | 0 |
| NC_000022.8 | Chr22 | 73 | 41 | 22 | 7 | 0 | 3 | 83 | 48 | 24 | 8 | 0 | 3 |
| NC_000023.8 | ChrX | 94 | 58 | 28 | 8 | 0 | 0 | 113 | 75 | 30 | 8 | 0 | 0 |
Samplesets
Number of Samplesets: 2
- Sampleset ID:
- 1
- Description:
- 427 ASD probands: 413 idiopathic cases and 14 others that were enrolled based on prior knowledge of cytogenetic abnormality
- Size:
- 427
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- See phenotypes on samples
| Sample ID | Cell Type | Subject ID | Sex | Ethnicity | Subject Phenotype |
|---|---|---|---|---|---|
| 47173L | B-Lymphocyte | SK0047-003 | Female | European | autistic disorder simplex (normal karyotype) |
| 39549L | B-Lymphocyte | SK0101-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 47544L | B-Lymphocyte | SK0147-003 | Female | Mixed | autistic disorder simplex (normal karyotype) iq/lof unknown; rl/el sev delay; rb2+; dysmorph 3+; neurofibromatosis type 1; abnormal eeg |
| 27155L | B-Lymphocyte | SK0105-003 | Male | European | autistic disorder chromosomal abnormalities |
| 23200 | Blood | SK0175-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 24626 | Blood | SK0110-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 25083 | Blood | SK0158-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 25460 | Blood | SK0157-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 29077 | Blood | SK0093-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 29117 | Blood | SK0092-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 29186 | Blood | SK0036-003 | Female | European | autistic disorder simplex (normal karyotype) |
| 29224 | Blood | SK0059-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 29346 | Blood | SK0043-003 | Male | European | autistic disorder chromosomal abnormalities |
| 29517 | Blood | SK0164-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 30193 | Blood | SK0055-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 30422 | Blood | SK0085-004 | Male | African | autistic disorder multiplex (normal karyotype) |
| 30595 | Blood | SK0140-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 30661 | Blood | SK0132-003 | Male | Mixed | autistic disorder multiplex (normal karyotype) |
| 31899 | Blood | SK0102-004 | Male | European | autistic disorder simplex (normal karyotype) iq/lof 39; rl/el sev delay; speech 2+; rb3+; dysmorph 2+; epilepsy; scoliosis; diaphragmatic hernia |
| 31929 | Blood | SK0071-004 | Male | European | autistic disorder multiplex (normal karyotype) |
| 32269 | Blood | SK0137-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 32794 | Blood | SK0173-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 33034 | Blood | SK0141-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 35190 | Blood | SK0119-003 | Male | Mixed | autistic disorder multiplex (normal karyotype) iq/lof 77; rl/el mod/sev delay; dysmorph 3+; velocardiofacial syndrome |
| 35613 | Blood | SK0120-003 | Male | Asian | autistic disorder simplex (normal karyotype) |
| 36773 | Blood | SK0166-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 36812 | Blood | SK0143-003 | Male | European | autistic disorder simplex (normal karyotype) iq/lof 65; rl/el sev delay; speech 2+; rb2+; dysmorph 2+; seizures; hypoplastic left heart syndrome; left hemidiaphragm paralysis |
| 37497 | Blood | SK0096-004 | Male | European | autistic disorder simplex (normal karyotype) |
| 38712 | Blood | SK0076-003 | Female | Mixed | autistic disorder simplex (normal karyotype) |
| 39185 | Blood | SK0084-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 39372 | Blood | SK0004-003 | Female | European | autistic disorder simplex (normal karyotype) |
| 39551 | Blood | SK0165-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 39876 | Blood | SK0127-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 39989 | Blood | SK0131-003 | Female | European | autistic disorder chromosomal abnormalities iq/lof 74; rl/el mod/sev delay; speech 2+; rb2+; dysmorph 3+; microcephaly |
| 40450 | Blood | SK0087-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 40555 | Blood | SK0115-003 | Male | European | autistic disorder simplex (normal karyotype) iq/lof 86; rl/el average; rb2+; ysmorph n/a |
| 40919 | Blood | SK0057-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 41288 | Blood | SK0121-003 | Male | Asian | autistic disorder simplex (normal karyotype) |
| 41350 | Blood | SK0148-005 | Female | European | autistic disorder simplex (normal karyotype) |
| 41548 | Blood | SK0152-003 | Male | European | autistic disorder chromosomal abnormalities lof 31; rl/el mod/sev delay; speech 3+; rb2+; dysmorph 0; hypotonia affecting fm & gm development |
| 41606 | Blood | SK0014-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 42052 | Blood | MM0019-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 42055 | Blood | MM0202-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 42091 | Blood | SK0122-003 | Female | European | autistic disorder chromosomal abnormalities |
| 42258 | Blood | SK0103-005 | Male | European | autistic disorder simplex (normal karyotype) |
| 42267 | Blood | MM0289-003 | Female | Mixed | autistic disorder multiplex (normal karyotype) iq/lof 45; language delay; rb2+; dysmorph 0 |
| 42276 | Blood | MM0064-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 42285 | Blood | MM0244-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 42375 | Blood | SK0156-003 | Male | Mixed | autistic disorder simplex (normal karyotype) |
| 42382 | Blood | MM0149-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 42387 | Blood | MM0103-003 | Male | European | autistic disorder multiplex (normal karyotype) iq/lof 100; language mild delay; speech 0; rb2+; dysmorph 0; twin preg (other twin lost in 1st trimester); premature (34 wks with respiratory distress syndrome); club feet |
| 42401 | Blood | MM0135-003 | Female | European | autistic disorder multiplex (normal karyotype) |
| 43467 | Blood | MM0297-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 43734 | Blood | MM0152-003 | Male | Mixed | autistic disorder simplex (normal karyotype) |
| 43743 | Blood | MM0240-003 | Female | Mixed | autistic disorder multiplex (normal karyotype) |
| 43749 | Blood | MM0119-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 44271 | Blood | SK0064-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 44292 | Blood | MM0208-004 | Female | European | autistic disorder multiplex (normal karyotype) |
| 44301 | Blood | MM0265-003 | Female | European | autistic disorder multiplex (normal karyotype) |
| 44307 | Blood | MM0302-005 | Male | European | autistic disorder simplex (normal karyotype) |
| 44644 | Blood | MM0022-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 44777 | Blood | SK0172-005 | Male | Mixed | autistic disorder simplex (normal karyotype) |
| 44951 | Blood | SK0061-003 | Male | European | autistic disorder simplex (abnormal karyotype) |
| 45547 | Blood | MM0241-004 | Male | European | autistic disorder multiplex (normal karyotype) |
| 45553 | Blood | MM0218-004 | Male | European | autistic disorder multiplex (normal karyotype) |
| 45562 | Blood | MM0088-003 | Female | European | autistic disorder multiplex (normal karyotype) iq/lof 82; rl/el mod delay; rb3+; dysmorph 0 |
| 45563 | Blood | MM0272-003 | Male | European | autistic disorder multiplex (normal karyotype) iq/lof 74; language mild delay; speech 3+; rb2+; dysmorph n/a; seizures; unilateral congenital ptosis |
| 45751 | Blood | MM0286-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 45758 | Blood | MM0304-004 | Male | Mixed | autistic disorder multiplex (normal karyotype) |
| 46012 | Blood | SK0133-003 | Male | European | autistic disorder chromosomal abnormalities |
| 46100 | Blood | SK0112-003 | Male | Mixed | autistic disorder multiplex (normal karyotype) |
| 46264 | Blood | SK0168-003 | Male | European | autistic disorder simplex (normal karyotype) |
| 46362 | Blood | MM0116-004 | Male | European | autistic disorder multiplex (normal karyotype) |
| 46407 | Blood | SK0091-004 | Female | European | autistic disorder multiplex (normal karyotype) iq/lof 92; rl/el average/mod delay; rb3+; dysmorph 0; placental insufficiency |
| 46475 | Blood | MM0236-004 | Male | European | autistic disorder multiplex (normal karyotype) iq/lof 84; language average; rb1+; dysmorph 0; central auditory processing difficulty |
| 46486 | Blood | MM0109-003 | Female | European | autistic disorder simplex (normal karyotype) iq/lof 27; language nonverbal; rb3+; dysmorph 1+ |
| 46488 | Blood | MM0295-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 46673 | Blood | SK0009-004 | Female | European | autistic disorder multiplex (normal karyotype) |
| 46685 | Blood | MM0081-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 46687 | Blood | MM0063-003 | Female | European | autistic disorder multiplex (normal karyotype) |
| 46693 | Blood | MM0057-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 46736 | Blood | MM0112-005 | Male | European | autistic disorder multiplex (normal karyotype) |
| 46823 | Blood | MM0219-003 | Male | European | autistic disorder multiplex (normal karyotype) |
| 46991 | Blood | MM0256-004 | Male | European | autistic disorder multiplex (normal karyotype) |
| 46992 | Blood | MM0306-004 | Male | European | autistic disorder simplex (normal karyotype) |
| 47005 | Blood | SK0113-003 | Male | Mixed | autistic disorder simplex (normal karyotype) |
| 47009 | Blood | SK0171-004 | Male | European | autistic disorder multiplex (normal karyotype) |
| 47024 | Blood | MM0238-003 | Female | European | autistic disorder multiplex (normal karyotype) |
| 47093 | Blood | MM0006-003 | Female | European | autistic disorder multiplex (normal karyotype) |
| 47095 | Blood | MM0215-004 | Male | European | autistic disorder multiplex (normal karyotype) |
| 47096 | Blood | MM0171-004 | Male | European | autistic disorder multiplex (normal karyotype) |
| 47264 | Blood | SK0162-004 | Female | European | autistic disorder simplex (normal karyotype) |
| 47372 | Blood | MM0010-005 | Male | European | autistic disorder multiplex (normal karyotype) |
| 47376 | Blood | MM0210-004 | Male | European | autistic disorder multiplex (normal karyotype) |
| 47382 | Blood | MM0142-003 | Female | European | autistic disorder multiplex (normal karyotype) |
| 47383 | Blood | MM0132-004 | Male | European | autistic disorder multiplex (normal karyotype) |
| 47386 | Blood | MM0143-004 | Male | European | autistic disorder multiplex (normal karyotype) |
| 47389 | Blood | MM0270-003 | Female | European | autistic disorder multiplex (normal karyotype) |
| 47392 | Blood | MM0273-004 | Male | European | autistic disorder multiplex (normal karyotype) |
| 47490 | Blood | NA0004-003 | Male | European | autistic disorder simplex (normal karyotype) |
- Sampleset ID:
- 2
- Description:
- 2 samples used as reference in experiment 3
- Size:
- 2
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
Experimental Details
| Experiment ID | Type | Method | Analysis | Platforms | Data | Number of Variant Calls |
|---|---|---|---|---|---|---|
| 1 | Discovery | SNP array | SNP genotyping analysis | Affymetrix GeneChip Early Access Mapping 500K Set Array (250K_Nsp_SNP), Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP), [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array, [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array, See more...(1) | GEO | 235 |
| 2 | Discovery | SNP array | SNP genotyping analysis | Affymetrix GeneChip Early Access Mapping 500K Set Array (250K_Nsp_SNP), Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP), [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array, [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array, See more...(1) | GEO | 568 |
| 3 | Discovery | SNP array | SNP genotyping analysis | Affymetrix GeneChip Early Access Mapping 500K Set Array (250K_Nsp_SNP), Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP), [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array, [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array, See more...(1) | GEO | 665 |
| 4 | Discovery | Merging of experiments 1,2,3 | Merging of experiments 1,2,3 | See merged experiments | 0 | |
| 5 | Discovery | Merging of experiments 1,2,3 | Merging of experiments 1,2,3 | See merged experiments | 0 | |
| 6 | Discovery | Merging of experiments 4,5 | Merging of experiments 4,5 | 0 | ||
| 7 | Discovery | Merging of experiments 1,2,3,4 | Merging of experiments 1,2,3,4 | See merged experiments | 292 | |
| 8 | Discovery | Merging of experiments 1,2,3,4,5,6 | Merging of experiments 1,2,3,4,5,6 | See merged experiments | 160 | |
| 9 | Discovery | Merging of experiments 1,2,4 | Merging of experiments 1,2,4 | See merged experiments | 220 | |
| 10 | Discovery | Merging of experiments 1,2,4,5,6 | Merging of experiments 1,2,4,5,6 | See merged experiments | 39 | |
| 11 | Discovery | Merging of experiments 1,3,4 | Merging of experiments 1,3,4 | See merged experiments | 18 | |
| 12 | Discovery | Merging of experiments 1,3,4,5,6 | Merging of experiments 1,3,4,5,6 | See merged experiments | 12 | |
| 13 | Discovery | Merging of experiments 1,4 | Merging of experiments 1,4 | See merged experiments | 59 | |
| 14 | Discovery | Merging of experiments 1,4,5,6 | Merging of experiments 1,4,5,6 | See merged experiments | 24 | |
| 15 | Discovery | Merging of experiments 1,5 | Merging of experiments 1,5 | See merged experiments | 209 | |
| 16 | Discovery | Merging of experiments 2,3,4 | Merging of experiments 2,3,4 | See merged experiments | 321 | |
| 17 | Discovery | Merging of experiments 2,3,4,5,6 | Merging of experiments 2,3,4,5,6 | See merged experiments | 39 | |
| 18 | Discovery | Merging of experiments 2,4 | Merging of experiments 2,4 | See merged experiments | 129 | |
| 19 | Discovery | Merging of experiments 2,4,5,6 | Merging of experiments 2,4,5,6 | See merged experiments | 2 | |
| 20 | Discovery | Merging of experiments 2,5 | Merging of experiments 2,5 | See merged experiments | 103 | |
| 21 | Discovery | Merging of experiments 3,5 | Merging of experiments 3,5 | See merged experiments | 301 |