nsv948460
- Organism: Homo sapiens
- Study:nstd85 (vanSilfhout et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:312,210
- Publication(s):Vulto-van Silfhout et al. 2013
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: 702 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 704 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv948460 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 175,470,040 | 175,782,249 |
| nsv948460 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 175,439,176 | 175,751,385 |
| nsv948460 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 172,170,833 | 172,483,042 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2766985 | copy number gain | SNP array | SNP genotyping analysis | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2766985 | Remapped | Perfect | NC_000001.11:g.(?_ 175470040)_(175782 249_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 175,470,040 | 175,782,249 |
| nssv2766985 | Remapped | Perfect | NC_000001.10:g.(?_ 175439176)_(175751 385_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 175,439,176 | 175,751,385 |
| nssv2766985 | Submitted genomic | NC_000001.8:g.(?_1 72170833)_(1724830 42_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 172,170,833 | 172,483,042 |