nsv470643
- Organism: Homo sapiens
- Study:nstd30 (Jakobsson et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:165,684
- Publication(s):Jakobsson 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: 690 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 690 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 199 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470643 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 45,989,493 | 46,155,176 |
| nsv470643 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 46,458,696 | 46,624,379 |
| nsv470643 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 45,528,446 | 45,694,129 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv547573 | copy number loss | HGDP00070 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv547573 | Remapped | Perfect | NC_000014.9:g.(?_4 5989493)_(46155176 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,989,493 | 46,155,176 |
| nssv547573 | Remapped | Perfect | NC_000014.8:g.(?_4 6458696)_(46624379 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,458,696 | 46,624,379 |
| nssv547573 | Submitted genomic | NC_000014.7:g.(?_4 5528446)_(45694129 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 45,528,446 | 45,694,129 |