nsv912042
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:183,180
- Publication(s):Xu et al. 2011
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2573 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 2573 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 934 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv912042 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nsv912042 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nsv912042 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1520546 | copy number loss | SP51134 | SNP array | SNP genotyping analysis | 13 |
| nssv1525268 | copy number loss | SP56387 | SNP array | SNP genotyping analysis | 11 |
| nssv1526230 | copy number gain | SP57113 | SNP array | SNP genotyping analysis | 7 |
| nssv1526731 | copy number loss | SP57736 | SNP array | SNP genotyping analysis | 12 |
| nssv1529970 | copy number gain | MS10150 | SNP array | SNP genotyping analysis | 7 |
| nssv1531784 | copy number gain | MS10645 | SNP array | SNP genotyping analysis | 13 |
| nssv1533042 | copy number gain | MS10994 | SNP array | SNP genotyping analysis | 10 |
| nssv1533980 | copy number gain | MS11358 | SNP array | SNP genotyping analysis | 10 |
| nssv1535142 | copy number gain | MS12039 | SNP array | SNP genotyping analysis | 14 |
| nssv1537728 | copy number gain | MS13330 | SNP array | SNP genotyping analysis | 9 |
| nssv1539522 | copy number gain | MS14354 | SNP array | SNP genotyping analysis | 7 |
| nssv1545612 | copy number gain | MS16851 | SNP array | SNP genotyping analysis | 13 |
| nssv1547413 | copy number gain | MS17371 | SNP array | SNP genotyping analysis | 12 |
| nssv1554666 | copy number gain | MS20878 | SNP array | SNP genotyping analysis | 14 |
| nssv1556839 | copy number gain | MS22212 | SNP array | SNP genotyping analysis | 12 |
| nssv1558873 | copy number gain | MS23583 | SNP array | SNP genotyping analysis | 10 |
| nssv1562465 | copy number gain | MS25603 | SNP array | SNP genotyping analysis | 11 |
| nssv1578157 | copy number loss | IS34698 | SNP array | SNP genotyping analysis | 14 |
| nssv1586255 | copy number gain | IS37704 | SNP array | SNP genotyping analysis | 12 |
| nssv1588597 | copy number gain | IS38219 | SNP array | SNP genotyping analysis | 25 |
| nssv1588802 | copy number gain | IS38251 | SNP array | SNP genotyping analysis | 11 |
| nssv1595787 | copy number gain | IS40326 | SNP array | SNP genotyping analysis | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1520546 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1525268 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1526230 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1526731 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1529970 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1531784 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1533042 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1533980 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1535142 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1537728 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1539522 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1545612 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1547413 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1554666 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1556839 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1558873 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1562465 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1578157 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1586255 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1588597 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1588802 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1595787 | Remapped | Perfect | NC_000019.10:g.(43 039564_43052691)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,039,564 | 43,052,691 | 43,191,688 | 43,222,743 |
| nssv1520546 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1525268 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1526230 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1526731 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1529970 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1531784 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1533042 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1533980 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1535142 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1537728 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1539522 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1545612 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1547413 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1554666 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1556839 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1558873 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1562465 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1578157 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1586255 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1588597 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1588802 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1595787 | Remapped | Perfect | NC_000019.9:g.(435 43716_43556843)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,543,716 | 43,556,843 | 43,695,840 | 43,726,895 |
| nssv1520546 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1525268 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1526230 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1526731 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1529970 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1531784 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1533042 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1533980 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1535142 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1537728 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1539522 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1545612 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1547413 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1554666 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1556839 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1558873 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1562465 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1578157 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1586255 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1588597 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1588802 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 | ||
| nssv1595787 | Submitted genomic | NC_000019.8:g.(482 35556_48248683)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,235,556 | 48,248,683 | 48,387,680 | 48,418,735 |