nsv438258
- Organism: Homo sapiens
- Study:nstd20 (McCarroll et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI34 (hg16)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,039
- Publication(s):McCarroll et al. 2006
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: 359 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 377 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv438258 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000013.11 | Chr13 | 114,068,403 | 114,069,441 |
| nsv438258 | Remapped | Perfect | GRCh38.p12 | PATCHES | First Pass | NW_011332698.1 | Chr13|NW_0 11332698.1 | 127,494 | 128,532 |
| nsv438258 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 114,833,878 | 114,834,916 |
| nsv438258 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000013.8 | Chr13 | 112,751,980 | 112,753,018 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv470616 | copy number loss | NA18859 | SNP array | SNP genotyping analysis | 10 |
| nssv470617 | copy number loss | NA18860 | SNP array | SNP genotyping analysis | 18 |
| nssv470619 | copy number loss | NA18861 | SNP array | SNP genotyping analysis | 9 |
| nssv470620 | copy number loss | NA18863 | SNP array | SNP genotyping analysis | 16 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv470616 | Remapped | Perfect | NW_011332698.1:g.( ?_127494)_(128532_ ?)del | GRCh38.p12 | First Pass | NW_011332698.1 | Chr13|NW_0 11332698.1 | 127,494 | 128,532 |
| nssv470617 | Remapped | Perfect | NW_011332698.1:g.( ?_127494)_(128532_ ?)del | GRCh38.p12 | First Pass | NW_011332698.1 | Chr13|NW_0 11332698.1 | 127,494 | 128,532 |
| nssv470619 | Remapped | Perfect | NW_011332698.1:g.( ?_127494)_(128532_ ?)del | GRCh38.p12 | First Pass | NW_011332698.1 | Chr13|NW_0 11332698.1 | 127,494 | 128,532 |
| nssv470620 | Remapped | Perfect | NW_011332698.1:g.( ?_127494)_(128532_ ?)del | GRCh38.p12 | First Pass | NW_011332698.1 | Chr13|NW_0 11332698.1 | 127,494 | 128,532 |
| nssv470616 | Remapped | Perfect | NC_000013.11:g.(?_ 114068403)_(114069 441_?)del | GRCh38.p12 | Second Pass | NC_000013.11 | Chr13 | 114,068,403 | 114,069,441 |
| nssv470617 | Remapped | Perfect | NC_000013.11:g.(?_ 114068403)_(114069 441_?)del | GRCh38.p12 | Second Pass | NC_000013.11 | Chr13 | 114,068,403 | 114,069,441 |
| nssv470619 | Remapped | Perfect | NC_000013.11:g.(?_ 114068403)_(114069 441_?)del | GRCh38.p12 | Second Pass | NC_000013.11 | Chr13 | 114,068,403 | 114,069,441 |
| nssv470620 | Remapped | Perfect | NC_000013.11:g.(?_ 114068403)_(114069 441_?)del | GRCh38.p12 | Second Pass | NC_000013.11 | Chr13 | 114,068,403 | 114,069,441 |
| nssv470616 | Remapped | Perfect | NC_000013.10:g.(?_ 114833878)_(114834 916_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 114,833,878 | 114,834,916 |
| nssv470617 | Remapped | Perfect | NC_000013.10:g.(?_ 114833878)_(114834 916_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 114,833,878 | 114,834,916 |
| nssv470619 | Remapped | Perfect | NC_000013.10:g.(?_ 114833878)_(114834 916_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 114,833,878 | 114,834,916 |
| nssv470620 | Remapped | Perfect | NC_000013.10:g.(?_ 114833878)_(114834 916_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 114,833,878 | 114,834,916 |
| nssv470616 | Submitted genomic | NC_000013.8:g.(?_1 12751980)_(1127530 18_?)del | NCBI34 (hg16) | NC_000013.8 | Chr13 | 112,751,980 | 112,753,018 | ||
| nssv470617 | Submitted genomic | NC_000013.8:g.(?_1 12751980)_(1127530 18_?)del | NCBI34 (hg16) | NC_000013.8 | Chr13 | 112,751,980 | 112,753,018 | ||
| nssv470619 | Submitted genomic | NC_000013.8:g.(?_1 12751980)_(1127530 18_?)del | NCBI34 (hg16) | NC_000013.8 | Chr13 | 112,751,980 | 112,753,018 | ||
| nssv470620 | Submitted genomic | NC_000013.8:g.(?_1 12751980)_(1127530 18_?)del | NCBI34 (hg16) | NC_000013.8 | Chr13 | 112,751,980 | 112,753,018 |