nsv442031
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:53,272
- Publication(s):McCarroll et al. 2008
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: 352 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 352 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv442031 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 16,309,218 | 16,362,489 |
| nsv442031 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 16,348,843 | 16,402,114 |
| nsv442031 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 16,122,083 | 16,175,354 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1658277 | copy number loss | NA18558 | SNP array | Probe signal intensity | 1 | 139 |
| nssv1658278 | copy number loss | NA18563 | SNP array | Probe signal intensity | 1 | 153 |
| nssv1658279 | copy number loss | NA18620 | SNP array | Probe signal intensity | 1 | 150 |
| nssv1658280 | copy number loss | NA18635 | SNP array | Probe signal intensity | 1 | 154 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1658277 | Remapped | Perfect | NC_000007.14:g.(?_ 16309218)_(1636248 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 16,309,218 | 16,362,489 |
| nssv1658278 | Remapped | Perfect | NC_000007.14:g.(?_ 16309218)_(1636248 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 16,309,218 | 16,362,489 |
| nssv1658279 | Remapped | Perfect | NC_000007.14:g.(?_ 16309218)_(1636248 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 16,309,218 | 16,362,489 |
| nssv1658280 | Remapped | Perfect | NC_000007.14:g.(?_ 16309218)_(1636248 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 16,309,218 | 16,362,489 |
| nssv1658277 | Remapped | Perfect | NC_000007.13:g.(?_ 16348843)_(1640211 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 16,348,843 | 16,402,114 |
| nssv1658278 | Remapped | Perfect | NC_000007.13:g.(?_ 16348843)_(1640211 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 16,348,843 | 16,402,114 |
| nssv1658279 | Remapped | Perfect | NC_000007.13:g.(?_ 16348843)_(1640211 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 16,348,843 | 16,402,114 |
| nssv1658280 | Remapped | Perfect | NC_000007.13:g.(?_ 16348843)_(1640211 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 16,348,843 | 16,402,114 |
| nssv1658277 | Submitted genomic | NC_000007.11:g.(?_ 16122083)_(1617535 4_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 16,122,083 | 16,175,354 | ||
| nssv1658278 | Submitted genomic | NC_000007.11:g.(?_ 16122083)_(1617535 4_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 16,122,083 | 16,175,354 | ||
| nssv1658279 | Submitted genomic | NC_000007.11:g.(?_ 16122083)_(1617535 4_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 16,122,083 | 16,175,354 | ||
| nssv1658280 | Submitted genomic | NC_000007.11:g.(?_ 16122083)_(1617535 4_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 16,122,083 | 16,175,354 |