nsv430995
- Organism: Homo sapiens
- Study:nstd12 (Marshall et al. 2008)
- Variant Type:copy number variation
- Method Type:Merging, SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:187,741
- Publication(s):Marshall 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: 968 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 968 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv430995 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 42,483,333 | 42,671,073 |
| nsv430995 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 42,952,536 | 43,140,276 |
| nsv430995 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000014.7 | Chr14 | 42,022,286 | 42,210,026 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv562769 | copy number loss | 78621 | Merging, SNP array | Merging, SNP genotyping analysis | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv562769 | Remapped | Perfect | NC_000014.9:g.(?_4 2483333)_(42671073 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 42,483,333 | 42,671,073 |
| nssv562769 | Remapped | Perfect | NC_000014.8:g.(?_4 2952536)_(43140276 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 42,952,536 | 43,140,276 |
| nssv562769 | Submitted genomic | NC_000014.7:g.(?_4 2022286)_(42210026 _?)del | NCBI35 (hg17) | NC_000014.7 | Chr14 | 42,022,286 | 42,210,026 |