nsv948758
- 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:139,532
- 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: 395 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 396 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv948758 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 54,882,264 | 55,021,795 |
| nsv948758 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 55,748,430 | 55,887,962 |
| nsv948758 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 55,589,358 | 55,728,890 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2767317 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2767317 | Remapped | Good | NC_000004.12:g.(?_ 54882264)_(5502179 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 54,882,264 | 55,021,795 |
| nssv2767317 | Remapped | Perfect | NC_000004.11:g.(?_ 55748430)_(5588796 2_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 55,748,430 | 55,887,962 |
| nssv2767317 | Submitted genomic | NC_000004.9:g.(?_5 5589358)_(55728890 _?)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 55,589,358 | 55,728,890 |