nsv948492
- 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:188,965
- 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: 867 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 867 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv948492 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 5,219,811 | 5,408,775 |
| nsv948492 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 5,221,538 | 5,410,502 |
| nsv948492 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 5,339,610 | 5,528,574 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2767020 | copy number loss | SNP array | SNP genotyping analysis | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2767020 | Remapped | Perfect | NC_000004.12:g.(?_ 5219811)_(5408775_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 5,219,811 | 5,408,775 |
| nssv2767020 | Remapped | Perfect | NC_000004.11:g.(?_ 5221538)_(5410502_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 5,221,538 | 5,410,502 |
| nssv2767020 | Submitted genomic | NC_000004.9:g.(?_5 339610)_(5528574_? )del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 5,339,610 | 5,528,574 |