nsv912102
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:84,960
- 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: 1849 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1849 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 748 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv912102 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nsv912102 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nsv912102 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1536823 | copy number gain | MS12972 | SNP array | SNP genotyping analysis | 12 |
| nssv1537422 | copy number gain | MS13205 | SNP array | SNP genotyping analysis | 16 |
| nssv1539857 | copy number gain | MS14522 | SNP array | SNP genotyping analysis | 15 |
| nssv1539950 | copy number loss | MS14630 | SNP array | SNP genotyping analysis | 12 |
| nssv1542375 | copy number loss | MS15768 | SNP array | SNP genotyping analysis | 13 |
| nssv1545792 | copy number loss | MS16947 | SNP array | SNP genotyping analysis | 14 |
| nssv1548358 | copy number loss | MS17817 | SNP array | SNP genotyping analysis | 10 |
| nssv1549116 | copy number gain | MS18077 | SNP array | SNP genotyping analysis | 14 |
| nssv1549328 | copy number loss | MS18190 | SNP array | SNP genotyping analysis | 9 |
| nssv1550213 | copy number gain | MS18368 | SNP array | SNP genotyping analysis | 13 |
| nssv1552691 | copy number loss | MS19584 | SNP array | SNP genotyping analysis | 22 |
| nssv1555015 | copy number loss | MS21159 | SNP array | SNP genotyping analysis | 10 |
| nssv1556093 | copy number gain | MS21789 | SNP array | SNP genotyping analysis | 10 |
| nssv1558618 | copy number gain | MS23423 | SNP array | SNP genotyping analysis | 17 |
| nssv1560352 | copy number gain | MS24444 | SNP array | SNP genotyping analysis | 17 |
| nssv1587394 | copy number gain | IS38031 | SNP array | SNP genotyping analysis | 13 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1536823 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1537422 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1539857 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1539950 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1542375 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1545792 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1548358 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1549116 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1549328 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1550213 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1552691 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1555015 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1556093 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1558618 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1560352 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1587394 | Remapped | Perfect | NC_000019.10:g.(43 137784_43141405)_( 43191688_43222743) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,137,784 | 43,141,405 | 43,191,688 | 43,222,743 |
| nssv1536823 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1537422 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1539857 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1539950 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1542375 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1545792 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1548358 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1549116 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1549328 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1550213 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1552691 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1555015 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1556093 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1558618 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1560352 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1587394 | Remapped | Perfect | NC_000019.9:g.(436 41936_43645557)_(4 3695840_43726895)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,641,936 | 43,645,557 | 43,695,840 | 43,726,895 |
| nssv1536823 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1537422 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1539857 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1539950 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1542375 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1545792 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1548358 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1549116 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1549328 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1550213 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1552691 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1555015 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1556093 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1558618 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1560352 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 | ||
| nssv1587394 | Submitted genomic | NC_000019.8:g.(483 33776_48337397)_(4 8387680_48418735)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 48,333,776 | 48,337,397 | 48,387,680 | 48,418,735 |