nstd132 (Walker et al. 2017)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Logan Walker
- Description:
- We conducted a genome-wide association analysis of copy number variants (CNVs) with breast or ovarian cancer risk in a cohort of 2500 BRCA1 pathogenic variant carriers, using Illumina 610k SNP array data from a previously study (PMID: 20852631). This study highlighted the need to verify CNVs in vitro, but also provides evidence that experimentally validated CNVs (with plausible biological consequences) can modify risk of breast or ovarian cancer in BRCA1 pathogenic variant carriers. See Variant Summary counts for nstd132 in dbVar Variant Summary.
- Publication(s):
- Walker et al. 2017
Detailed Information: Download 6173 Variant Regions, Download 15888 Variant Calls, Download Both, FTP
Variant Summary
Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI36 (hg18)
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.11 | Chr1 | 597 | 1,700 | Remapped | NC_000001.11 |
| NC_000002.12 | Chr2 | 347 | 602 | Remapped | NC_000002.12 |
| NC_000003.12 | Chr3 | 329 | 1,931 | Remapped | NC_000003.12 |
| NC_000004.12 | Chr4 | 353 | 1,211 | Remapped | NC_000004.12 |
| NC_000005.10 | Chr5 | 275 | 477 | Remapped | NC_000005.10 |
| NC_000006.12 | Chr6 | 274 | 481 | Remapped | NC_000006.12 |
| NC_000007.14 | Chr7 | 382 | 650 | Remapped | NC_000007.14 |
| NC_000008.11 | Chr8 | 391 | 1,919 | Remapped | NC_000008.11 |
| NC_000009.12 | Chr9 | 372 | 537 | Remapped | NC_000009.12 |
| NC_000010.11 | Chr10 | 234 | 357 | Remapped | NC_000010.11 |
| NC_000011.10 | Chr11 | 402 | 1,833 | Remapped | NC_000011.10 |
| NC_000012.12 | Chr12 | 218 | 347 | Remapped | NC_000012.12 |
| NC_000013.11 | Chr13 | 130 | 398 | Remapped | NC_000013.11 |
| NC_000014.9 | Chr14 | 177 | 242 | Remapped | NC_000014.9 |
| NC_000015.10 | Chr15 | 245 | 587 | Remapped | NC_000015.10 |
| NC_000016.10 | Chr16 | 327 | 432 | Remapped | NC_000016.10 |
| NC_000017.11 | Chr17 | 268 | 422 | Remapped | NC_000017.11 |
| NC_000018.10 | Chr18 | 52 | 125 | Remapped | NC_000018.10 |
| NC_000019.10 | Chr19 | 252 | 531 | Remapped | NC_000019.10 |
| NC_000020.11 | Chr20 | 177 | 428 | Remapped | NC_000020.11 |
| NC_000021.9 | Chr21 | 102 | 141 | Remapped | NC_000021.9 |
| NC_000022.11 | Chr22 | 130 | 185 | Remapped | NC_000022.11 |
| NC_000023.11 | ChrX | 97 | 201 | Remapped | NC_000023.11 |
| NT_187515.1 | Chr1|NT_187515.1 | 36 | 69 | Remapped | NT_187515.1 |
| NT_187516.1 | Chr1|NT_187516.1 | 13 | 109 | Remapped | NT_187516.1 |
| NT_187518.1 | Chr1|NT_187518.1 | 3 | 5 | Remapped | NT_187518.1 |
| NT_187646.1 | Chr1|NT_187646.1 | 3 | 5 | Remapped | NT_187646.1 |
| NW_012132914.1 | Chr1|NW_012132914.1 | 8 | 18 | Remapped | NW_012132914.1 |
| NW_015495298.1 | Chr1|NW_015495298.1 | 1 | 1 | Remapped | NW_015495298.1 |
| NW_017852928.1 | Chr1|NW_017852928.1 | 1 | 1 | Remapped | NW_017852928.1 |
| NT_187527.1 | Chr2|NT_187527.1 | 2 | 2 | Remapped | NT_187527.1 |
| NW_015495299.1 | Chr2|NW_015495299.1 | 5 | 8 | Remapped | NW_015495299.1 |
| NT_187678.1 | Chr3|NT_187678.1 | 2 | 4 | Remapped | NT_187678.1 |
| NT_187688.1 | Chr3|NT_187688.1 | 2 | 4 | Remapped | NT_187688.1 |
| NT_187689.1 | Chr3|NT_187689.1 | 2 | 4 | Remapped | NT_187689.1 |
| NT_187690.1 | Chr3|NT_187690.1 | 2 | 4 | Remapped | NT_187690.1 |
| NT_187691.1 | Chr3|NT_187691.1 | 2 | 4 | Remapped | NT_187691.1 |
| NT_187532.1 | Chr3|NT_187532.1 | 2 | 4 | Remapped | NT_187532.1 |
| NT_187649.1 | Chr3|NT_187649.1 | 2 | 4 | Remapped | NT_187649.1 |
| NW_012132916.1 | Chr3|NW_012132916.1 | 2 | 2 | Remapped | NW_012132916.1 |
| NW_019805489.1 | Chr3|NW_019805489.1 | 11 | 178 | Remapped | NW_019805489.1 |
| NW_019805490.1 | Chr3|NW_019805490.1 | 5 | 6 | Remapped | NW_019805490.1 |
| NW_019805492.1 | Chr3|NW_019805492.1 | 1 | 1 | Remapped | NW_019805492.1 |
| NT_167250.2 | Chr4|NT_167250.2 | 6 | 8 | Remapped | NT_167250.2 |
| NT_187540.1 | Chr4|NT_187540.1 | 3 | 3 | Remapped | NT_187540.1 |
| NW_013171801.1 | Chr4|NW_013171801.1 | 3 | 3 | Remapped | NW_013171801.1 |
| NT_187550.1 | Chr5|NT_187550.1 | 2 | 3 | Remapped | NT_187550.1 |
| NT_187651.1 | Chr5|NT_187651.1 | 2 | 2 | Remapped | NT_187651.1 |
| NW_016107298.1 | Chr5|NW_016107298.1 | 4 | 4 | Remapped | NW_016107298.1 |
| NT_167246.2 | Chr6|NT_167246.2 | 24 | 28 | Remapped | NT_167246.2 |
| NT_167247.2 | Chr6|NT_167247.2 | 58 | 133 | Remapped | NT_167247.2 |
| NT_167249.2 | Chr6|NT_167249.2 | 56 | 128 | Remapped | NT_167249.2 |
| NT_167245.2 | Chr6|NT_167245.2 | 52 | 125 | Remapped | NT_167245.2 |
| NT_167244.2 | Chr6|NT_167244.2 | 20 | 43 | Remapped | NT_167244.2 |
| NT_187556.1 | Chr6|NT_187556.1 | 8 | 16 | Remapped | NT_187556.1 |
| NW_018654713.1 | Chr6|NW_018654713.1 | 5 | 6 | Remapped | NW_018654713.1 |
| NT_187558.1 | Chr7|NT_187558.1 | 2 | 3 | Remapped | NT_187558.1 |
| NT_187560.1 | Chr7|NT_187560.1 | 5 | 26 | Remapped | NT_187560.1 |
| NT_187562.1 | Chr7|NT_187562.1 | 19 | 120 | Remapped | NT_187562.1 |
| NT_187563.1 | Chr7|NT_187563.1 | 1 | 1 | Remapped | NT_187563.1 |
| NT_187653.1 | Chr7|NT_187653.1 | 2 | 3 | Remapped | NT_187653.1 |
| NW_012132919.1 | Chr7|NW_012132919.1 | 1 | 1 | Remapped | NW_012132919.1 |
| NW_017852930.1 | Chr7|NW_017852930.1 | 2 | 5 | Remapped | NW_017852930.1 |
| NW_018654714.1 | Chr7|NW_018654714.1 | 4 | 4 | Remapped | NW_018654714.1 |
| NT_187570.1 | Chr8|NT_187570.1 | 2 | 3 | Remapped | NT_187570.1 |
| NT_187571.1 | Chr8|NT_187571.1 | 14 | 14 | Remapped | NT_187571.1 |
| NT_187574.1 | Chr8|NT_187574.1 | 9 | 9 | Remapped | NT_187574.1 |
| NT_187576.1 | Chr8|NT_187576.1 | 4 | 9 | Remapped | NT_187576.1 |
| NT_187577.1 | Chr8|NT_187577.1 | 19 | 20 | Remapped | NT_187577.1 |
| NW_018654716.1 | Chr8|NW_018654716.1 | 6 | 8 | Remapped | NW_018654716.1 |
| NW_018654717.1 | Chr8|NW_018654717.1 | 8 | 9 | Remapped | NW_018654717.1 |
| NW_009646201.1 | Chr9|NW_009646201.1 | 7 | 8 | Remapped | NW_009646201.1 |
| NW_003315934.1 | Chr10|NW_003315934.1 | 11 | 25 | Remapped | NW_003315934.1 |
| NW_013171807.1 | Chr10|NW_013171807.1 | 2 | 2 | Remapped | NW_013171807.1 |
| NT_187681.1 | Chr11|NT_187681.1 | 6 | 6 | Remapped | NT_187681.1 |
| NT_187585.1 | Chr11|NT_187585.1 | 7 | 11 | Remapped | NT_187585.1 |
| NT_187586.1 | Chr11|NT_187586.1 | 10 | 11 | Remapped | NT_187586.1 |
| NW_015148966.1 | Chr11|NW_015148966.1 | 11 | 16 | Remapped | NW_015148966.1 |
| NT_187658.1 | Chr12|NT_187658.1 | 8 | 9 | Remapped | NT_187658.1 |
| NT_187588.1 | Chr12|NT_187588.1 | 1 | 1 | Remapped | NT_187588.1 |
| NW_003571050.1 | Chr12|NW_003571050.1 | 4 | 4 | Remapped | NW_003571050.1 |
| NW_013171809.1 | Chr12|NW_013171809.1 | 2 | 2 | Remapped | NW_013171809.1 |
| NW_018654718.1 | Chr12|NW_018654718.1 | 5 | 52 | Remapped | NW_018654718.1 |
| NW_011332698.1 | Chr13|NW_011332698.1 | 7 | 7 | Remapped | NW_011332698.1 |
| NT_187600.1 | Chr14|NT_187600.1 | 3 | 3 | Remapped | NT_187600.1 |
| NT_187601.1 | Chr14|NT_187601.1 | 5 | 6 | Remapped | NT_187601.1 |
| NW_018654722.1 | Chr14|NW_018654722.1 | 5 | 12 | Remapped | NW_018654722.1 |
| NT_187660.1 | Chr15|NT_187660.1 | 17 | 21 | Remapped | NT_187660.1 |
| NT_187603.1 | Chr15|NT_187603.1 | 1 | 1 | Remapped | NT_187603.1 |
| NW_003315944.2 | Chr15|NW_003315944.2 | 2 | 7 | Remapped | NW_003315944.2 |
| NW_011332701.1 | Chr15|NW_011332701.1 | 19 | 26 | Remapped | NW_011332701.1 |
| NT_187607.1 | Chr16|NT_187607.1 | 1 | 1 | Remapped | NT_187607.1 |
| NT_187608.1 | Chr16|NT_187608.1 | 3 | 3 | Remapped | NT_187608.1 |
| NT_187610.1 | Chr16|NT_187610.1 | 1 | 1 | Remapped | NT_187610.1 |
| NW_017852933.1 | Chr16|NW_017852933.1 | 4 | 4 | Remapped | NW_017852933.1 |
| NW_018654723.1 | Chr16|NW_018654723.1 | 2 | 2 | Remapped | NW_018654723.1 |
| NT_187664.1 | Chr17|NT_187664.1 | 7 | 23 | Remapped | NT_187664.1 |
| NT_187611.1 | Chr17|NT_187611.1 | 9 | 11 | Remapped | NT_187611.1 |
| NT_187612.1 | Chr17|NT_187612.1 | 10 | 40 | Remapped | NT_187612.1 |
| NT_187613.1 | Chr17|NT_187613.1 | 7 | 23 | Remapped | NT_187613.1 |
| NT_187614.1 | Chr17|NT_187614.1 | 2 | 2 | Remapped | NT_187614.1 |
| NW_003315952.3 | Chr17|NW_003315952.3 | 2 | 2 | Remapped | NW_003315952.3 |
| NT_187617.1 | Chr18|NT_187617.1 | 1 | 1 | Remapped | NT_187617.1 |
| NW_013171814.1 | Chr18|NW_013171814.1 | 1 | 2 | Remapped | NW_013171814.1 |
| NT_187693.1 | Chr19|NT_187693.1 | 13 | 14 | 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 | 4 | 4 | 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 | 2 | Remapped | NW_003571055.2 |
| NW_003315962.1 | Chr19|NW_003315962.1 | 2 | 4 | Remapped | NW_003315962.1 |
| NW_003571054.1 | Chr19|NW_003571054.1 | 4 | 4 | Remapped | NW_003571054.1 |
| NW_014040929.1 | Chr19|NW_014040929.1 | 1 | 1 | Remapped | NW_014040929.1 |
| NT_187623.1 | Chr20|NT_187623.1 | 2 | 2 | Remapped | NT_187623.1 |
| NT_187626.1 | Chr21|NT_187626.1 | 3 | 3 | Remapped | NT_187626.1 |
| NW_003315970.2 | Chr21|NW_003315970.2 | 3 | 4 | Remapped | NW_003315970.2 |
| NT_187629.1 | Chr22|NT_187629.1 | 3 | 3 | Remapped | NT_187629.1 |
| NT_187630.1 | Chr22|NT_187630.1 | 2 | 9 | Remapped | NT_187630.1 |
| NT_187633.1 | Chr22|NT_187633.1 | 8 | 64 | Remapped | NT_187633.1 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.10 | Chr1 | 602 | 1,709 | Remapped | NC_000001.10 |
| NC_000002.11 | Chr2 | 348 | 603 | Remapped | NC_000002.11 |
| NC_000003.11 | Chr3 | 329 | 1,931 | Remapped | NC_000003.11 |
| NC_000004.11 | Chr4 | 353 | 1,211 | Remapped | NC_000004.11 |
| NC_000005.9 | Chr5 | 275 | 477 | Remapped | NC_000005.9 |
| NC_000006.11 | Chr6 | 274 | 481 | Remapped | NC_000006.11 |
| NC_000007.13 | Chr7 | 382 | 650 | Remapped | NC_000007.13 |
| NC_000008.10 | Chr8 | 391 | 1,919 | Remapped | NC_000008.10 |
| NC_000009.11 | Chr9 | 375 | 544 | Remapped | NC_000009.11 |
| NC_000010.10 | Chr10 | 235 | 358 | Remapped | NC_000010.10 |
| NC_000011.9 | Chr11 | 402 | 1,833 | Remapped | NC_000011.9 |
| NC_000012.11 | Chr12 | 218 | 347 | Remapped | NC_000012.11 |
| NC_000013.10 | Chr13 | 130 | 398 | Remapped | NC_000013.10 |
| NC_000014.8 | Chr14 | 177 | 242 | Remapped | NC_000014.8 |
| NC_000015.9 | Chr15 | 245 | 587 | Remapped | NC_000015.9 |
| NC_000016.9 | Chr16 | 327 | 432 | Remapped | NC_000016.9 |
| NC_000017.10 | Chr17 | 266 | 420 | Remapped | NC_000017.10 |
| NC_000018.9 | Chr18 | 52 | 125 | Remapped | NC_000018.9 |
| NC_000019.9 | Chr19 | 250 | 529 | Remapped | NC_000019.9 |
| NC_000020.10 | Chr20 | 177 | 428 | Remapped | NC_000020.10 |
| NC_000021.8 | Chr21 | 102 | 141 | Remapped | NC_000021.8 |
| NC_000022.10 | Chr22 | 138 | 249 | Remapped | NC_000022.10 |
| NC_000023.10 | ChrX | 97 | 201 | Remapped | NC_000023.10 |
| NW_003871056.3 | Chr1|NW_003871056.3 | 1 | 1 | Remapped | NW_003871056.3 |
| NW_003871058.1 | Chr3|NW_003871058.1 | 1 | 1 | Remapped | NW_003871058.1 |
| NW_004775426.1 | Chr3|NW_004775426.1 | 2 | 2 | Remapped | NW_004775426.1 |
| NT_167250.1 | Chr4|NT_167250.1 | 6 | 8 | Remapped | NT_167250.1 |
| NW_004775427.1 | Chr4|NW_004775427.1 | 1 | 1 | Remapped | NW_004775427.1 |
| NW_004775428.1 | Chr5|NW_004775428.1 | 7 | 7 | Remapped | NW_004775428.1 |
| NT_167244.1 | Chr6|NT_167244.1 | 20 | 43 | Remapped | NT_167244.1 |
| NT_167245.1 | Chr6|NT_167245.1 | 53 | 126 | Remapped | NT_167245.1 |
| NT_167246.1 | Chr6|NT_167246.1 | 24 | 28 | Remapped | NT_167246.1 |
| NT_167247.1 | Chr6|NT_167247.1 | 58 | 133 | Remapped | NT_167247.1 |
| NT_167249.1 | Chr6|NT_167249.1 | 56 | 128 | Remapped | NT_167249.1 |
| NW_003571037.1 | Chr7|NW_003571037.1 | 2 | 2 | Remapped | NW_003571037.1 |
| NW_003571040.1 | Chr7|NW_003571040.1 | 19 | 120 | Remapped | NW_003571040.1 |
| NW_003871064.1 | Chr7|NW_003871064.1 | 6 | 6 | Remapped | NW_003871064.1 |
| NW_003315923.1 | Chr8|NW_003315923.1 | 18 | 29 | Remapped | NW_003315923.1 |
| NW_003315924.1 | Chr8|NW_003315924.1 | 10 | 13 | Remapped | NW_003315924.1 |
| NW_003571042.1 | Chr8|NW_003571042.1 | 3 | 8 | Remapped | NW_003571042.1 |
| NW_003315925.1 | Chr9|NW_003315925.1 | 7 | 8 | Remapped | NW_003315925.1 |
| NW_003315927.1 | Chr9|NW_003315927.1 | 1 | 1 | Remapped | NW_003315927.1 |
| NW_004070868.1 | Chr9|NW_004070868.1 | 2 | 2 | Remapped | NW_004070868.1 |
| NW_004070869.1 | Chr9|NW_004070869.1 | 3 | 4 | Remapped | NW_004070869.1 |
| NW_003315934.1 | Chr10|NW_003315934.1 | 11 | 25 | Remapped | NW_003315934.1 |
| NW_003571043.1 | Chr10|NW_003571043.1 | 1 | 1 | Remapped | NW_003571043.1 |
| NW_003871068.1 | Chr10|NW_003871068.1 | 2 | 2 | Remapped | NW_003871068.1 |
| NW_003871069.1 | Chr10|NW_003871069.1 | 1 | 1 | Remapped | NW_003871069.1 |
| NW_004775432.1 | Chr10|NW_004775432.1 | 3 | 3 | Remapped | NW_004775432.1 |
| NW_003571046.1 | Chr11|NW_003571046.1 | 1 | 1 | Remapped | NW_003571046.1 |
| NW_004070871.1 | Chr11|NW_004070871.1 | 1 | 1 | Remapped | NW_004070871.1 |
| NW_003315937.1 | Chr12|NW_003315937.1 | 3 | 4 | Remapped | NW_003315937.1 |
| NW_004166863.1 | Chr14|NW_004166863.1 | 17 | 18 | Remapped | NW_004166863.1 |
| NW_003315944.1 | Chr15|NW_003315944.1 | 2 | 7 | Remapped | NW_003315944.1 |
| NW_003871085.1 | Chr16|NW_003871085.1 | 2 | 2 | Remapped | NW_003871085.1 |
| NW_003315947.1 | Chr17|NW_003315947.1 | 1 | 1 | Remapped | NW_003315947.1 |
| NW_003315948.2 | Chr17|NW_003315948.2 | 1 | 1 | Remapped | NW_003315948.2 |
| NW_003315949.1 | Chr17|NW_003315949.1 | 1 | 4 | Remapped | NW_003315949.1 |
| NW_003315950.2 | Chr17|NW_003315950.2 | 5 | 6 | Remapped | NW_003315950.2 |
| NW_003871087.1 | Chr17|NW_003871087.1 | 9 | 11 | Remapped | NW_003871087.1 |
| NW_004070872.2 | Chr17|NW_004070872.2 | 2 | 2 | Remapped | NW_004070872.2 |
| NW_003315962.1 | Chr19|NW_003315962.1 | 2 | 4 | Remapped | NW_003315962.1 |
| NW_003571053.2 | Chr19|NW_003571053.2 | 20 | 110 | Remapped | NW_003571053.2 |
| NW_004166865.1 | Chr19|NW_004166865.1 | 11 | 12 | Remapped | NW_004166865.1 |
| NW_003571063.2 | Chr20|NW_003571063.2 | 7 | 8 | Remapped | NW_003571063.2 |
| NW_003315970.1 | Chr21|NW_003315970.1 | 3 | 4 | Remapped | NW_003315970.1 |
| NW_003871098.1 | ChrX|NW_003871098.1 | 1 | 1 | Remapped | NW_003871098.1 |
| NW_003871103.3 | ChrX|NW_003871103.3 | 19 | 27 | Remapped | NW_003871103.3 |
| NW_004070880.2 | ChrX|NW_004070880.2 | 9 | 29 | Remapped | NW_004070880.2 |
| NW_004070887.1 | ChrX|NW_004070887.1 | 2 | 2 | Remapped | NW_004070887.1 |
| NW_004070888.1 | ChrX|NW_004070888.1 | 1 | 1 | Remapped | NW_004070888.1 |
| NW_004166866.1 | ChrX|NW_004166866.1 | 4 | 62 | Remapped | NW_004166866.1 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.9 | Chr1 | 602 | 1,709 | Submitted | NC_000001.9 |
| NC_000002.10 | Chr2 | 348 | 603 | Submitted | NC_000002.10 |
| NC_000003.10 | Chr3 | 329 | 1,931 | Submitted | NC_000003.10 |
| NC_000004.10 | Chr4 | 366 | 1,265 | Submitted | NC_000004.10 |
| NC_000005.8 | Chr5 | 275 | 477 | Submitted | NC_000005.8 |
| NC_000006.10 | Chr6 | 274 | 481 | Submitted | NC_000006.10 |
| NC_000007.12 | Chr7 | 382 | 650 | Submitted | NC_000007.12 |
| NC_000008.9 | Chr8 | 391 | 1,919 | Submitted | NC_000008.9 |
| NC_000009.10 | Chr9 | 375 | 544 | Submitted | NC_000009.10 |
| NC_000010.9 | Chr10 | 236 | 359 | Submitted | NC_000010.9 |
| NC_000011.8 | Chr11 | 402 | 1,833 | Submitted | NC_000011.8 |
| NC_000012.10 | Chr12 | 218 | 347 | Submitted | NC_000012.10 |
| NC_000013.9 | Chr13 | 130 | 398 | Submitted | NC_000013.9 |
| NC_000014.7 | Chr14 | 177 | 242 | Submitted | NC_000014.7 |
| NC_000015.8 | Chr15 | 245 | 587 | Submitted | NC_000015.8 |
| NC_000016.8 | Chr16 | 327 | 432 | Submitted | NC_000016.8 |
| NC_000017.9 | Chr17 | 269 | 426 | Submitted | NC_000017.9 |
| NC_000018.8 | Chr18 | 52 | 125 | Submitted | NC_000018.8 |
| NC_000019.8 | Chr19 | 261 | 541 | Submitted | NC_000019.8 |
| NC_000020.9 | Chr20 | 177 | 428 | Submitted | NC_000020.9 |
| NC_000021.7 | Chr21 | 102 | 141 | Submitted | NC_000021.7 |
| NC_000022.9 | Chr22 | 138 | 249 | Submitted | NC_000022.9 |
| NC_000023.9 | ChrX | 97 | 201 | Submitted | NC_000023.9 |
| 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_000001.9 | Chr1 | 602 | 588 | 9 | 4 | 0 | 1 | 1,709 | 1,694 | 10 | 4 | 0 | 1 |
| NC_000002.10 | Chr2 | 348 | 343 | 0 | 5 | 0 | 0 | 603 | 598 | 0 | 5 | 0 | 0 |
| NC_000003.10 | Chr3 | 329 | 316 | 8 | 2 | 0 | 3 | 1,931 | 1,913 | 13 | 2 | 0 | 3 |
| NC_000004.10 | Chr4 | 366 | 320 | 5 | 21 | 13 | 7 | 1,265 | 753 | 5 | 444 | 54 | 9 |
| NC_000005.8 | Chr5 | 275 | 268 | 0 | 0 | 0 | 7 | 477 | 470 | 0 | 0 | 0 | 7 |
| NC_000006.10 | Chr6 | 274 | 203 | 2 | 0 | 0 | 69 | 481 | 333 | 2 | 0 | 0 | 146 |
| NC_000007.12 | Chr7 | 382 | 321 | 29 | 5 | 0 | 27 | 650 | 459 | 58 | 5 | 0 | 128 |
| NC_000008.9 | Chr8 | 391 | 298 | 28 | 34 | 0 | 31 | 1,919 | 1,792 | 33 | 44 | 0 | 50 |
| NC_000009.10 | Chr9 | 375 | 346 | 4 | 12 | 0 | 13 | 544 | 512 | 4 | 13 | 0 | 15 |
| NC_000010.9 | Chr10 | 236 | 210 | 4 | 3 | 1 | 18 | 359 | 316 | 5 | 5 | 1 | 32 |
| NC_000011.8 | Chr11 | 402 | 388 | 2 | 10 | 0 | 2 | 1,833 | 1,814 | 2 | 15 | 0 | 2 |
| NC_000012.10 | Chr12 | 218 | 211 | 0 | 4 | 0 | 3 | 347 | 339 | 0 | 4 | 0 | 4 |
| NC_000013.9 | Chr13 | 130 | 130 | 0 | 0 | 0 | 0 | 398 | 398 | 0 | 0 | 0 | 0 |
| NC_000014.7 | Chr14 | 177 | 154 | 3 | 3 | 0 | 17 | 242 | 217 | 3 | 4 | 0 | 18 |
| NC_000015.8 | Chr15 | 245 | 212 | 3 | 28 | 0 | 2 | 587 | 497 | 4 | 79 | 0 | 7 |
| NC_000016.8 | Chr16 | 327 | 322 | 0 | 3 | 0 | 2 | 432 | 427 | 0 | 3 | 0 | 2 |
| NC_000017.9 | Chr17 | 269 | 200 | 37 | 14 | 1 | 17 | 426 | 271 | 89 | 45 | 1 | 20 |
| NC_000018.8 | Chr18 | 52 | 52 | 0 | 0 | 0 | 0 | 125 | 125 | 0 | 0 | 0 | 0 |
| NC_000019.8 | Chr19 | 261 | 228 | 9 | 2 | 0 | 22 | 541 | 415 | 10 | 2 | 0 | 114 |
| NC_000020.9 | Chr20 | 177 | 155 | 4 | 11 | 0 | 7 | 428 | 403 | 5 | 12 | 0 | 8 |
| NC_000021.7 | Chr21 | 102 | 99 | 0 | 0 | 0 | 3 | 141 | 137 | 0 | 0 | 0 | 4 |
| NC_000022.9 | Chr22 | 138 | 134 | 2 | 2 | 0 | 0 | 249 | 245 | 2 | 2 | 0 | 0 |
| NC_000023.9 | ChrX | 97 | 60 | 0 | 1 | 0 | 36 | 201 | 78 | 0 | 1 | 0 | 122 |
| 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_000001.9 | Chr1 | 602 | 482 | 36 | 18 | 5 | 61 | 1,709 | 1,431 | 41 | 26 | 9 | 202 |
| NC_000002.10 | Chr2 | 348 | 307 | 28 | 5 | 1 | 7 | 603 | 540 | 47 | 5 | 1 | 10 |
| NC_000003.10 | Chr3 | 329 | 293 | 15 | 0 | 0 | 21 | 1,931 | 1,713 | 27 | 0 | 0 | 191 |
| NC_000004.10 | Chr4 | 366 | 309 | 11 | 21 | 13 | 12 | 1,265 | 740 | 13 | 444 | 54 | 14 |
| NC_000005.8 | Chr5 | 275 | 264 | 3 | 0 | 0 | 8 | 477 | 465 | 3 | 0 | 0 | 9 |
| NC_000006.10 | Chr6 | 274 | 186 | 6 | 0 | 0 | 82 | 481 | 306 | 7 | 0 | 0 | 168 |
| NC_000007.12 | Chr7 | 382 | 292 | 55 | 1 | 0 | 34 | 650 | 391 | 98 | 1 | 0 | 160 |
| NC_000008.9 | Chr8 | 391 | 215 | 43 | 71 | 0 | 62 | 1,919 | 1,627 | 127 | 93 | 0 | 72 |
| NC_000009.10 | Chr9 | 375 | 343 | 12 | 10 | 3 | 7 | 544 | 502 | 16 | 11 | 7 | 8 |
| NC_000010.9 | Chr10 | 236 | 210 | 4 | 7 | 2 | 13 | 359 | 316 | 5 | 9 | 2 | 27 |
| NC_000011.8 | Chr11 | 402 | 326 | 45 | 3 | 0 | 28 | 1,833 | 1,723 | 68 | 4 | 0 | 38 |
| NC_000012.10 | Chr12 | 218 | 193 | 2 | 8 | 0 | 15 | 347 | 272 | 2 | 10 | 0 | 63 |
| NC_000013.9 | Chr13 | 130 | 122 | 1 | 0 | 0 | 7 | 398 | 390 | 1 | 0 | 0 | 7 |
| NC_000014.7 | Chr14 | 177 | 140 | 11 | 13 | 0 | 13 | 242 | 196 | 11 | 14 | 0 | 21 |
| NC_000015.8 | Chr15 | 245 | 192 | 3 | 28 | 0 | 22 | 587 | 470 | 4 | 79 | 0 | 34 |
| NC_000016.8 | Chr16 | 327 | 304 | 12 | 0 | 0 | 11 | 432 | 404 | 17 | 0 | 0 | 11 |
| NC_000017.9 | Chr17 | 269 | 170 | 53 | 15 | 1 | 30 | 426 | 220 | 104 | 20 | 4 | 78 |
| NC_000018.8 | Chr18 | 52 | 49 | 0 | 1 | 0 | 2 | 125 | 121 | 0 | 1 | 0 | 3 |
| NC_000019.8 | Chr19 | 261 | 224 | 30 | 0 | 0 | 7 | 541 | 502 | 30 | 0 | 0 | 9 |
| NC_000020.9 | Chr20 | 177 | 158 | 10 | 7 | 0 | 2 | 428 | 406 | 12 | 8 | 0 | 2 |
| NC_000021.7 | Chr21 | 102 | 69 | 27 | 0 | 0 | 6 | 141 | 98 | 36 | 0 | 0 | 7 |
| NC_000022.9 | Chr22 | 138 | 103 | 26 | 2 | 1 | 6 | 249 | 197 | 34 | 4 | 1 | 13 |
| NC_000023.9 | ChrX | 97 | 77 | 20 | 0 | 0 | 0 | 201 | 161 | 40 | 0 | 0 | 0 |
Samplesets
Number of Samplesets: 1
- Name:
- BRCA1 pathogenic variant carriers
- Description:
- Female BRCA1 pathogenic variant carriers
- Size:
- 2,301
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1
- Sex:
- Female
Experimental Details
| Experiment ID | Type | Method | Analysis | Platforms | Number of Variant Calls |
|---|---|---|---|---|---|
| 1 | Discovery | SNP array | Genotyping | Illumina Infinium 610K array | 15,888 |