nstd84 (de Ligt et al. 2013)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Philip Boone
- Description:
- An assessment of four published computational algorithms to identify clinically-relevant copy-number variation among patient-derived exome sequencing data. CNVs were concurrently assessed by two independent high resolution microarray platforms. See Variant Summary counts for nstd84 in dbVar Variant Summary.
- Publication(s):
- de Ligt et al. 2013
Detailed Information: Download 10376 Variant Regions, Download 11064 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 | 707 | 770 | Remapped | NC_000001.11 |
| NC_000002.12 | Chr2 | 652 | 685 | Remapped | NC_000002.12 |
| NC_000003.12 | Chr3 | 379 | 403 | Remapped | NC_000003.12 |
| NC_000004.12 | Chr4 | 429 | 453 | Remapped | NC_000004.12 |
| NC_000005.10 | Chr5 | 436 | 451 | Remapped | NC_000005.10 |
| NC_000006.12 | Chr6 | 412 | 444 | Remapped | NC_000006.12 |
| NC_000007.14 | Chr7 | 514 | 540 | Remapped | NC_000007.14 |
| NC_000008.11 | Chr8 | 425 | 474 | Remapped | NC_000008.11 |
| NC_000009.12 | Chr9 | 316 | 328 | Remapped | NC_000009.12 |
| NC_000010.11 | Chr10 | 405 | 436 | Remapped | NC_000010.11 |
| NC_000011.10 | Chr11 | 444 | 473 | Remapped | NC_000011.10 |
| NC_000012.12 | Chr12 | 397 | 432 | Remapped | NC_000012.12 |
| NC_000013.11 | Chr13 | 219 | 227 | Remapped | NC_000013.11 |
| NC_000014.9 | Chr14 | 385 | 440 | Remapped | NC_000014.9 |
| NC_000015.10 | Chr15 | 369 | 411 | Remapped | NC_000015.10 |
| NC_000016.10 | Chr16 | 399 | 432 | Remapped | NC_000016.10 |
| NC_000017.11 | Chr17 | 439 | 472 | Remapped | NC_000017.11 |
| NC_000018.10 | Chr18 | 215 | 218 | Remapped | NC_000018.10 |
| NC_000019.10 | Chr19 | 418 | 447 | Remapped | NC_000019.10 |
| NC_000020.11 | Chr20 | 228 | 260 | Remapped | NC_000020.11 |
| NC_000021.9 | Chr21 | 159 | 163 | Remapped | NC_000021.9 |
| NC_000022.11 | Chr22 | 370 | 400 | Remapped | NC_000022.11 |
| NC_000023.11 | ChrX | 1,126 | 1,139 | Remapped | NC_000023.11 |
| NC_000024.10 | ChrY | 356 | 356 | Remapped | NC_000024.10 |
| NT_187364.1 | Chr1|NT_187364.1 | 3 | 3 | Remapped | NT_187364.1 |
| NT_187515.1 | Chr1|NT_187515.1 | 3 | 3 | Remapped | NT_187515.1 |
| NT_187516.1 | Chr1|NT_187516.1 | 2 | 2 | Remapped | NT_187516.1 |
| NT_187517.1 | Chr1|NT_187517.1 | 2 | 2 | Remapped | NT_187517.1 |
| NT_187519.1 | Chr1|NT_187519.1 | 3 | 4 | Remapped | NT_187519.1 |
| NW_003315906.1 | Chr1|NW_003315906.1 | 3 | 3 | Remapped | NW_003315906.1 |
| NW_009646194.1 | Chr1|NW_009646194.1 | 1 | 1 | Remapped | NW_009646194.1 |
| NW_011332687.1 | Chr1|NW_011332687.1 | 1 | 1 | Remapped | NW_011332687.1 |
| NW_012132914.1 | Chr1|NW_012132914.1 | 3 | 3 | Remapped | NW_012132914.1 |
| NW_014040927.1 | Chr1|NW_014040927.1 | 3 | 4 | Remapped | NW_014040927.1 |
| NW_015495298.1 | Chr1|NW_015495298.1 | 4 | 4 | Remapped | NW_015495298.1 |
| NW_017852928.1 | Chr1|NW_017852928.1 | 5 | 6 | Remapped | NW_017852928.1 |
| NW_018654707.1 | Chr1|NW_018654707.1 | 15 | 19 | Remapped | NW_018654707.1 |
| NT_187523.1 | Chr2|NT_187523.1 | 1 | 1 | Remapped | NT_187523.1 |
| NT_187524.1 | Chr2|NT_187524.1 | 3 | 3 | Remapped | NT_187524.1 |
| NT_187529.1 | Chr2|NT_187529.1 | 6 | 6 | Remapped | NT_187529.1 |
| NT_187647.1 | Chr2|NT_187647.1 | 1 | 1 | Remapped | NT_187647.1 |
| NW_012132915.1 | Chr2|NW_012132915.1 | 31 | 32 | Remapped | NW_012132915.1 |
| NT_187678.1 | Chr3|NT_187678.1 | 18 | 21 | Remapped | NT_187678.1 |
| NT_187688.1 | Chr3|NT_187688.1 | 18 | 21 | Remapped | NT_187688.1 |
| NT_187689.1 | Chr3|NT_187689.1 | 18 | 21 | Remapped | NT_187689.1 |
| NT_187690.1 | Chr3|NT_187690.1 | 18 | 21 | Remapped | NT_187690.1 |
| NT_187691.1 | Chr3|NT_187691.1 | 18 | 21 | Remapped | NT_187691.1 |
| NT_187532.1 | Chr3|NT_187532.1 | 18 | 20 | Remapped | NT_187532.1 |
| NT_187538.1 | Chr3|NT_187538.1 | 1 | 1 | Remapped | NT_187538.1 |
| NT_187539.1 | Chr3|NT_187539.1 | 5 | 5 | Remapped | NT_187539.1 |
| NT_187649.1 | Chr3|NT_187649.1 | 18 | 21 | Remapped | NT_187649.1 |
| NW_003871060.2 | Chr3|NW_003871060.2 | 2 | 2 | Remapped | NW_003871060.2 |
| NW_011332691.1 | Chr3|NW_011332691.1 | 2 | 2 | Remapped | NW_011332691.1 |
| NW_003315915.1 | Chr4|NW_003315915.1 | 10 | 12 | Remapped | NW_003315915.1 |
| NT_187547.1 | Chr5|NT_187547.1 | 3 | 3 | Remapped | NT_187547.1 |
| NT_187548.1 | Chr5|NT_187548.1 | 2 | 2 | Remapped | NT_187548.1 |
| NT_187550.1 | Chr5|NT_187550.1 | 2 | 2 | Remapped | NT_187550.1 |
| NT_187651.1 | Chr5|NT_187651.1 | 19 | 19 | Remapped | NT_187651.1 |
| NW_003315917.2 | Chr5|NW_003315917.2 | 26 | 27 | Remapped | NW_003315917.2 |
| NW_016107297.1 | Chr5|NW_016107297.1 | 4 | 5 | Remapped | NW_016107297.1 |
| NW_016107298.1 | Chr5|NW_016107298.1 | 3 | 3 | Remapped | NW_016107298.1 |
| NW_004166862.2 | Chr6|NW_004166862.2 | 1 | 1 | Remapped | NW_004166862.2 |
| NW_013171802.1 | Chr6|NW_013171802.1 | 1 | 1 | Remapped | NW_013171802.1 |
| NW_018654713.1 | Chr6|NW_018654713.1 | 1 | 1 | Remapped | NW_018654713.1 |
| NT_187559.1 | Chr7|NT_187559.1 | 2 | 2 | Remapped | NT_187559.1 |
| NT_187560.1 | Chr7|NT_187560.1 | 5 | 5 | Remapped | NT_187560.1 |
| NT_187561.1 | Chr7|NT_187561.1 | 2 | 2 | Remapped | NT_187561.1 |
| NT_187562.1 | Chr7|NT_187562.1 | 25 | 33 | Remapped | NT_187562.1 |
| NT_187563.1 | Chr7|NT_187563.1 | 2 | 2 | Remapped | NT_187563.1 |
| NT_187564.1 | Chr7|NT_187564.1 | 2 | 2 | Remapped | NT_187564.1 |
| NT_187653.1 | Chr7|NT_187653.1 | 1 | 1 | Remapped | NT_187653.1 |
| NW_017852929.1 | Chr7|NW_017852929.1 | 4 | 4 | Remapped | NW_017852929.1 |
| NW_018654714.1 | Chr7|NW_018654714.1 | 4 | 4 | Remapped | NW_018654714.1 |
| NW_018654715.1 | Chr7|NW_018654715.1 | 5 | 5 | Remapped | NW_018654715.1 |
| NT_187680.1 | Chr8|NT_187680.1 | 1 | 1 | Remapped | NT_187680.1 |
| NT_187565.1 | Chr8|NT_187565.1 | 3 | 3 | Remapped | NT_187565.1 |
| NT_187566.1 | Chr8|NT_187566.1 | 15 | 15 | Remapped | NT_187566.1 |
| NT_187568.1 | Chr8|NT_187568.1 | 8 | 8 | Remapped | NT_187568.1 |
| NT_187570.1 | Chr8|NT_187570.1 | 13 | 19 | Remapped | NT_187570.1 |
| NT_187571.1 | Chr8|NT_187571.1 | 7 | 7 | Remapped | NT_187571.1 |
| NT_187573.1 | Chr8|NT_187573.1 | 1 | 1 | Remapped | NT_187573.1 |
| NT_187574.1 | Chr8|NT_187574.1 | 2 | 2 | Remapped | NT_187574.1 |
| NT_187576.1 | Chr8|NT_187576.1 | 11 | 11 | Remapped | NT_187576.1 |
| NT_187654.1 | Chr8|NT_187654.1 | 10 | 10 | Remapped | NT_187654.1 |
| NT_187655.1 | Chr8|NT_187655.1 | 1 | 1 | Remapped | NT_187655.1 |
| NW_018654716.1 | Chr8|NW_018654716.1 | 8 | 8 | Remapped | NW_018654716.1 |
| NW_018654717.1 | Chr8|NW_018654717.1 | 61 | 70 | Remapped | NW_018654717.1 |
| NT_187578.1 | Chr9|NT_187578.1 | 1 | 1 | Remapped | NT_187578.1 |
| NW_009646201.1 | Chr9|NW_009646201.1 | 3 | 3 | Remapped | NW_009646201.1 |
| NW_013171805.1 | Chr9|NW_013171805.1 | 1 | 1 | Remapped | NW_013171805.1 |
| NW_013171806.1 | Chr10|NW_013171806.1 | 3 | 3 | Remapped | NW_013171806.1 |
| NW_013171807.1 | Chr10|NW_013171807.1 | 3 | 4 | Remapped | NW_013171807.1 |
| NT_187681.1 | Chr11|NT_187681.1 | 4 | 4 | Remapped | NT_187681.1 |
| NT_187656.1 | Chr11|NT_187656.1 | 2 | 2 | Remapped | NT_187656.1 |
| NT_187657.1 | Chr11|NT_187657.1 | 1 | 1 | Remapped | NT_187657.1 |
| NT_187584.1 | Chr11|NT_187584.1 | 1 | 1 | Remapped | NT_187584.1 |
| NT_187585.1 | Chr11|NT_187585.1 | 5 | 5 | Remapped | NT_187585.1 |
| NT_187586.1 | Chr11|NT_187586.1 | 2 | 2 | Remapped | NT_187586.1 |
| NW_003871073.1 | Chr11|NW_003871073.1 | 1 | 1 | Remapped | NW_003871073.1 |
| NW_009646203.1 | Chr11|NW_009646203.1 | 1 | 1 | Remapped | NW_009646203.1 |
| NW_015148966.1 | Chr11|NW_015148966.1 | 5 | 5 | Remapped | NW_015148966.1 |
| NW_019805495.1 | Chr11|NW_019805495.1 | 9 | 9 | Remapped | NW_019805495.1 |
| NW_019805496.1 | Chr11|NW_019805496.1 | 1 | 1 | Remapped | NW_019805496.1 |
| NT_187658.1 | Chr12|NT_187658.1 | 11 | 14 | Remapped | NT_187658.1 |
| NT_187587.1 | Chr12|NT_187587.1 | 15 | 20 | Remapped | NT_187587.1 |
| NT_187588.1 | Chr12|NT_187588.1 | 2 | 2 | Remapped | NT_187588.1 |
| NW_003571049.1 | Chr12|NW_003571049.1 | 7 | 7 | Remapped | NW_003571049.1 |
| NW_003571050.1 | Chr12|NW_003571050.1 | 1 | 1 | Remapped | NW_003571050.1 |
| NW_011332696.1 | Chr12|NW_011332696.1 | 3 | 4 | Remapped | NW_011332696.1 |
| NW_018654718.1 | Chr12|NW_018654718.1 | 12 | 12 | Remapped | NW_018654718.1 |
| NW_018654719.1 | Chr12|NW_018654719.1 | 1 | 1 | Remapped | NW_018654719.1 |
| NT_187592.1 | Chr13|NT_187592.1 | 1 | 1 | Remapped | NT_187592.1 |
| NT_187594.1 | Chr13|NT_187594.1 | 11 | 11 | Remapped | NT_187594.1 |
| NW_011332698.1 | Chr13|NW_011332698.1 | 3 | 3 | Remapped | NW_011332698.1 |
| NW_011332699.1 | Chr13|NW_011332699.1 | 1 | 1 | Remapped | NW_011332699.1 |
| NT_187599.1 | Chr14|NT_187599.1 | 1 | 1 | Remapped | NT_187599.1 |
| NT_187600.1 | Chr14|NT_187600.1 | 90 | 121 | Remapped | NT_187600.1 |
| NT_187601.1 | Chr14|NT_187601.1 | 8 | 8 | Remapped | NT_187601.1 |
| NW_018654721.1 | Chr14|NW_018654721.1 | 1 | 1 | Remapped | NW_018654721.1 |
| NW_018654722.1 | Chr14|NW_018654722.1 | 9 | 9 | Remapped | NW_018654722.1 |
| NT_187660.1 | Chr15|NT_187660.1 | 12 | 12 | Remapped | NT_187660.1 |
| NT_187604.1 | Chr15|NT_187604.1 | 8 | 8 | Remapped | NT_187604.1 |
| NT_187606.1 | Chr15|NT_187606.1 | 2 | 2 | Remapped | NT_187606.1 |
| NW_003315943.1 | Chr15|NW_003315943.1 | 1 | 1 | Remapped | NW_003315943.1 |
| NW_011332701.1 | Chr15|NW_011332701.1 | 15 | 15 | Remapped | NW_011332701.1 |
| NT_187607.1 | Chr16|NT_187607.1 | 17 | 18 | Remapped | NT_187607.1 |
| NT_187610.1 | Chr16|NT_187610.1 | 1 | 1 | Remapped | NT_187610.1 |
| NW_003315945.1 | Chr16|NW_003315945.1 | 1 | 3 | Remapped | NW_003315945.1 |
| NW_017852933.1 | Chr16|NW_017852933.1 | 6 | 6 | Remapped | NW_017852933.1 |
| NW_019805500.1 | Chr16|NW_019805500.1 | 3 | 3 | Remapped | NW_019805500.1 |
| NT_187661.1 | Chr17|NT_187661.1 | 18 | 19 | Remapped | NT_187661.1 |
| NT_187663.1 | Chr17|NT_187663.1 | 22 | 38 | Remapped | NT_187663.1 |
| NT_187664.1 | Chr17|NT_187664.1 | 8 | 8 | Remapped | NT_187664.1 |
| NW_003871093.1 | Chr17|NW_003871093.1 | 15 | 16 | Remapped | NW_003871093.1 |
| NT_167251.2 | Chr17|NT_167251.2 | 0 | 1 | Remapped | NT_167251.2 |
| NT_187611.1 | Chr17|NT_187611.1 | 1 | 1 | Remapped | NT_187611.1 |
| NT_187612.1 | Chr17|NT_187612.1 | 1 | 1 | Remapped | NT_187612.1 |
| NT_187613.1 | Chr17|NT_187613.1 | 9 | 10 | Remapped | NT_187613.1 |
| NT_187614.1 | Chr17|NT_187614.1 | 43 | 45 | Remapped | NT_187614.1 |
| NW_003315952.3 | Chr17|NW_003315952.3 | 2 | 2 | Remapped | NW_003315952.3 |
| NW_003315953.2 | Chr17|NW_003315953.2 | 2 | 2 | Remapped | NW_003315953.2 |
| NW_003871092.1 | Chr17|NW_003871092.1 | 1 | 1 | Remapped | NW_003871092.1 |
| NW_016107299.1 | Chr17|NW_016107299.1 | 3 | 3 | Remapped | NW_016107299.1 |
| NW_017363817.1 | Chr17|NW_017363817.1 | 1 | 1 | Remapped | NW_017363817.1 |
| NW_017363819.1 | Chr17|NW_017363819.1 | 9 | 10 | Remapped | NW_017363819.1 |
| NT_187665.1 | Chr18|NT_187665.1 | 4 | 4 | Remapped | NT_187665.1 |
| NT_187666.1 | Chr18|NT_187666.1 | 8 | 8 | Remapped | NT_187666.1 |
| NT_187617.1 | Chr18|NT_187617.1 | 3 | 3 | Remapped | NT_187617.1 |
| NW_003315958.1 | Chr18|NW_003315958.1 | 4 | 4 | Remapped | NW_003315958.1 |
| NW_003315961.1 | Chr18|NW_003315961.1 | 8 | 8 | Remapped | NW_003315961.1 |
| NW_013171814.1 | Chr18|NW_013171814.1 | 1 | 1 | Remapped | NW_013171814.1 |
| NW_014040928.1 | Chr18|NW_014040928.1 | 1 | 1 | Remapped | NW_014040928.1 |
| NW_018654724.1 | Chr18|NW_018654724.1 | 1 | 1 | Remapped | NW_018654724.1 |
| NT_187693.1 | Chr19|NT_187693.1 | 58 | 68 | Remapped | NT_187693.1 |
| NW_003571061.2 | Chr19|NW_003571061.2 | 21 | 25 | Remapped | NW_003571061.2 |
| NW_003571057.2 | Chr19|NW_003571057.2 | 7 | 7 | Remapped | NW_003571057.2 |
| NW_003571058.2 | Chr19|NW_003571058.2 | 7 | 7 | Remapped | NW_003571058.2 |
| NW_003571059.2 | Chr19|NW_003571059.2 | 7 | 7 | Remapped | NW_003571059.2 |
| NW_003571060.1 | Chr19|NW_003571060.1 | 19 | 21 | Remapped | NW_003571060.1 |
| NW_003571056.2 | Chr19|NW_003571056.2 | 7 | 7 | Remapped | NW_003571056.2 |
| NW_003571055.2 | Chr19|NW_003571055.2 | 19 | 22 | Remapped | NW_003571055.2 |
| NT_187620.1 | Chr19|NT_187620.1 | 1 | 1 | Remapped | NT_187620.1 |
| NT_187622.1 | Chr19|NT_187622.1 | 2 | 2 | Remapped | NT_187622.1 |
| NW_003571054.1 | Chr19|NW_003571054.1 | 31 | 36 | Remapped | NW_003571054.1 |
| NW_014040929.1 | Chr19|NW_014040929.1 | 4 | 4 | Remapped | NW_014040929.1 |
| NT_187624.1 | Chr20|NT_187624.1 | 2 | 2 | Remapped | NT_187624.1 |
| NT_187626.1 | Chr21|NT_187626.1 | 1 | 1 | Remapped | NT_187626.1 |
| NW_003315968.2 | Chr21|NW_003315968.2 | 3 | 3 | Remapped | NW_003315968.2 |
| NT_187682.1 | Chr22|NT_187682.1 | 7 | 8 | Remapped | NT_187682.1 |
| NW_004504305.1 | Chr22|NW_004504305.1 | 1 | 1 | Remapped | NW_004504305.1 |
| NW_015148969.1 | Chr22|NW_015148969.1 | 9 | 9 | Remapped | NW_015148969.1 |
| NT_187629.1 | Chr22|NT_187629.1 | 4 | 4 | Remapped | NT_187629.1 |
| NT_187630.1 | Chr22|NT_187630.1 | 1 | 1 | Remapped | NT_187630.1 |
| NT_187633.1 | Chr22|NT_187633.1 | 45 | 52 | Remapped | NT_187633.1 |
| NW_003315971.2 | Chr22|NW_003315971.2 | 1 | 1 | Remapped | NW_003315971.2 |
| NW_003315972.2 | Chr22|NW_003315972.2 | 1 | 1 | Remapped | NW_003315972.2 |
| NT_187667.1 | ChrX|NT_187667.1 | 9 | 9 | Remapped | NT_187667.1 |
| NT_187634.1 | ChrX|NT_187634.1 | 9 | 9 | Remapped | NT_187634.1 |
| NT_187635.1 | ChrX|NT_187635.1 | 1 | 1 | Remapped | NT_187635.1 |
| NW_009646209.1 | ChrY|NW_009646209.1 | 12 | 12 | Remapped | NW_009646209.1 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.10 | Chr1 | 720 | 783 | Submitted | NC_000001.10 |
| NC_000002.11 | Chr2 | 658 | 691 | Submitted | NC_000002.11 |
| NC_000003.11 | Chr3 | 379 | 403 | Submitted | NC_000003.11 |
| NC_000004.11 | Chr4 | 429 | 453 | Submitted | NC_000004.11 |
| NC_000005.9 | Chr5 | 436 | 451 | Submitted | NC_000005.9 |
| NC_000006.11 | Chr6 | 412 | 444 | Submitted | NC_000006.11 |
| NC_000007.13 | Chr7 | 525 | 556 | Submitted | NC_000007.13 |
| NC_000008.10 | Chr8 | 433 | 483 | Submitted | NC_000008.10 |
| NC_000009.11 | Chr9 | 317 | 329 | Submitted | NC_000009.11 |
| NC_000010.10 | Chr10 | 417 | 448 | Submitted | NC_000010.10 |
| NC_000011.9 | Chr11 | 445 | 474 | Submitted | NC_000011.9 |
| NC_000012.11 | Chr12 | 397 | 432 | Submitted | NC_000012.11 |
| NC_000013.10 | Chr13 | 219 | 227 | Submitted | NC_000013.10 |
| NC_000014.8 | Chr14 | 390 | 451 | Submitted | NC_000014.8 |
| NC_000015.9 | Chr15 | 370 | 412 | Submitted | NC_000015.9 |
| NC_000016.9 | Chr16 | 399 | 432 | Submitted | NC_000016.9 |
| NC_000017.10 | Chr17 | 458 | 492 | Submitted | NC_000017.10 |
| NC_000018.9 | Chr18 | 218 | 222 | Submitted | NC_000018.9 |
| NC_000019.9 | Chr19 | 456 | 493 | Submitted | NC_000019.9 |
| NC_000020.10 | Chr20 | 228 | 260 | Submitted | NC_000020.10 |
| NC_000021.8 | Chr21 | 159 | 163 | Submitted | NC_000021.8 |
| NC_000022.10 | Chr22 | 407 | 446 | Submitted | NC_000022.10 |
| NC_000023.10 | ChrX | 1,144 | 1,159 | Submitted | NC_000023.10 |
| NC_000024.9 | ChrY | 360 | 360 | 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 | 720 | 630 | 40 | 6 | 6 | 38 | 783 | 683 | 43 | 6 | 6 | 45 |
| NC_000002.11 | Chr2 | 658 | 567 | 38 | 3 | 3 | 47 | 691 | 592 | 45 | 3 | 3 | 48 |
| NC_000003.11 | Chr3 | 379 | 339 | 8 | 4 | 0 | 28 | 403 | 360 | 8 | 4 | 0 | 31 |
| NC_000004.11 | Chr4 | 429 | 411 | 3 | 1 | 0 | 14 | 453 | 433 | 3 | 1 | 0 | 16 |
| NC_000005.9 | Chr5 | 436 | 389 | 0 | 0 | 0 | 47 | 451 | 402 | 0 | 0 | 0 | 49 |
| NC_000006.11 | Chr6 | 412 | 406 | 2 | 1 | 0 | 3 | 444 | 438 | 2 | 1 | 0 | 3 |
| NC_000007.13 | Chr7 | 525 | 467 | 15 | 2 | 0 | 41 | 556 | 495 | 15 | 2 | 0 | 44 |
| NC_000008.10 | Chr8 | 433 | 306 | 1 | 5 | 1 | 120 | 483 | 343 | 1 | 5 | 2 | 132 |
| NC_000009.11 | Chr9 | 317 | 302 | 2 | 7 | 1 | 5 | 329 | 314 | 2 | 7 | 1 | 5 |
| NC_000010.10 | Chr10 | 417 | 358 | 27 | 14 | 12 | 6 | 448 | 380 | 30 | 19 | 12 | 7 |
| NC_000011.9 | Chr11 | 445 | 413 | 2 | 3 | 1 | 26 | 474 | 442 | 2 | 3 | 1 | 26 |
| NC_000012.11 | Chr12 | 397 | 347 | 0 | 0 | 0 | 50 | 432 | 373 | 0 | 0 | 0 | 59 |
| NC_000013.10 | Chr13 | 219 | 204 | 0 | 0 | 0 | 15 | 227 | 212 | 0 | 0 | 0 | 15 |
| NC_000014.8 | Chr14 | 390 | 254 | 20 | 8 | 2 | 106 | 451 | 273 | 26 | 11 | 6 | 135 |
| NC_000015.9 | Chr15 | 370 | 329 | 13 | 4 | 0 | 24 | 412 | 363 | 19 | 6 | 0 | 24 |
| NC_000016.9 | Chr16 | 399 | 365 | 1 | 5 | 0 | 28 | 432 | 395 | 1 | 5 | 0 | 31 |
| NC_000017.10 | Chr17 | 458 | 342 | 19 | 3 | 0 | 94 | 492 | 356 | 19 | 3 | 0 | 114 |
| NC_000018.9 | Chr18 | 218 | 190 | 2 | 5 | 3 | 18 | 222 | 192 | 2 | 6 | 4 | 18 |
| NC_000019.9 | Chr19 | 456 | 410 | 8 | 0 | 0 | 38 | 493 | 442 | 8 | 0 | 0 | 43 |
| NC_000020.10 | Chr20 | 228 | 222 | 4 | 0 | 0 | 2 | 260 | 250 | 8 | 0 | 0 | 2 |
| NC_000021.8 | Chr21 | 159 | 149 | 4 | 1 | 0 | 5 | 163 | 149 | 8 | 1 | 0 | 5 |
| NC_000022.10 | Chr22 | 407 | 322 | 42 | 3 | 5 | 35 | 446 | 348 | 52 | 5 | 6 | 35 |
| NC_000023.10 | ChrX | 1,144 | 1,046 | 49 | 20 | 18 | 11 | 1,159 | 1,053 | 53 | 22 | 20 | 11 |
| NC_000024.9 | ChrY | 360 | 344 | 2 | 3 | 4 | 7 | 360 | 344 | 2 | 3 | 4 | 7 |
Samplesets
Number of Samplesets: 6
- Sampleset ID:
- 1
- Name:
- Subjects
- Description:
- 10 subjects with clinically-relevant CNVs
- Size:
- 10
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- Intellectual Disabillity
| Sample ID | Cell Type | Subject ID | Ethnicity | Subject Phenotype |
|---|---|---|---|---|
| 1 | whole blood | 1 | Caucasian | intellectual disabillity |
| 2 | whole blood | 2 | Caucasian | intellectual disabillity |
| 3 | whole blood | 3 | Caucasian | intellectual disabillity |
| 4 | whole blood | 4 | Caucasian | intellectual disabillity |
| 5 | whole blood | 5 | Caucasian | intellectual disabillity |
| 6 | whole blood | 6 | Caucasian | intellectual disabillity |
| 7 | whole blood | 7 | Caucasian | intellectual disabillity |
| 8 | whole blood | 8 | Caucasian | intellectual disabillity |
| 9 | whole blood | 9 | Caucasian | intellectual disabillity |
| 10 | whole blood | 10 | Caucasian | intellectual disabillity |
- Sampleset ID:
- 2
- Name:
- WES controls
- Size:
- 60 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 3
- Description:
- Affymetrix control set for the CytoScanHD platform generated from HapMap and normal blood samples
- Size:
- 0 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 4
- Description:
- Gender-matched control samples (HapMap individuals NA10851 and NA15510)
- Size:
- 2
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
| Sample ID | Cell Type | Subject ID | Sex | Ethnicity | Subject Age | Subject Phenotype |
|---|---|---|---|---|---|---|
| NA10851 | B-Lymphocyte | NA10851 | Male | Caucasian | 52 Years | Not reported |
| NA15510 | NA15510 | Female | Not reported |
- Sampleset ID:
- 5
- Description:
- in-house controls
- Size:
- 10 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 6
- Description:
- controls from BIG study
- Size:
- 200 (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 | Discovery | Sequencing | Read depth | SOLiD 5500xl | 329 |
| 2 | Discovery | Sequencing | Read depth | SOLiD 5500xl | 1,464 |
| 3 | Discovery | Sequencing | Read depth | SOLiD 5500xl | 65 |
| 4 | Discovery | Sequencing | Read depth | SOLiD 5500xl | 1,482 |
| 5 | Discovery | SNP array | SNP genotyping analysis | Affymetrix CytoScanHD, 2.6M probes | 1,593 |
| 6 | Discovery | Oligo aCGH | Probe signal intensity | NimbleGen, 4.2M probes | 6,074 |
| 7 | Discovery | SNP array | SNP genotyping analysis | Affymetrix 250k NspI array | 42 |
| 8 | Discovery | Oligo aCGH | Probe signal intensity | Affymetrix 2.7M microarray | 15 |