nsv948527
- 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:215,656
- 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: 815 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 815 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv948527 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 34,384,503 | 34,600,158 |
| nsv948527 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 34,384,608 | 34,600,263 |
| nsv948527 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 34,420,365 | 34,636,020 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2767060 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2767060 | Remapped | Perfect | NC_000005.10:g.(?_ 34384503)_(3460015 8_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 34,384,503 | 34,600,158 |
| nssv2767060 | Remapped | Perfect | NC_000005.9:g.(?_3 4384608)_(34600263 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 34,384,608 | 34,600,263 |
| nssv2767060 | Submitted genomic | NC_000005.8:g.(?_3 4420365)_(34636020 _?)dup | NCBI35 (hg17) | NC_000005.8 | Chr5 | 34,420,365 | 34,636,020 |