nsv1052766
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:105,489
- Publication(s):Coe et al. 2014
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: 602 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 602 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 127 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1052766 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 5,041,397 | 5,146,885 |
| nsv1052766 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 5,091,398 | 5,196,886 |
| nsv1052766 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 5,031,399 | 5,136,887 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3556978 | copy number loss | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3556978 | Remapped | Perfect | NC_000016.10:g.(?_ 5041397)_(5146885_ ?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 5,041,397 | 5,146,885 |
| nssv3556978 | Remapped | Perfect | NC_000016.9:g.(?_5 091398)_(5196886_? )del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 5,091,398 | 5,196,886 |
| nssv3556978 | Submitted genomic | NC_000016.8:g.(?_5 031399)_(5136887_? )del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 5,031,399 | 5,136,887 |