nsv949743
- Organism: Homo sapiens
- Study:nstd85 (vanSilfhout et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:268,644
- 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: 903 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 903 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv949743 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 134,002,879 | 134,271,522 |
| nsv949743 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 134,924,034 | 135,192,677 |
| nsv949743 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 135,281,639 | 135,550,282 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2767062 | copy number loss | SNP array | SNP genotyping analysis | 1 |
| nssv2768239 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2767062 | Remapped | Perfect | NC_000004.12:g.(?_ 134002879)_(134271 522_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 134,002,879 | 134,271,522 |
| nssv2768239 | Remapped | Perfect | NC_000004.12:g.(?_ 134002879)_(134271 522_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 134,002,879 | 134,271,522 |
| nssv2767062 | Remapped | Perfect | NC_000004.11:g.(?_ 134924034)_(135192 677_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 134,924,034 | 135,192,677 |
| nssv2768239 | Remapped | Perfect | NC_000004.11:g.(?_ 134924034)_(135192 677_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 134,924,034 | 135,192,677 |
| nssv2767062 | Submitted genomic | NC_000004.9:g.(?_1 35281639)_(1355502 82_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 135,281,639 | 135,550,282 | ||
| nssv2768239 | Submitted genomic | NC_000004.9:g.(?_1 35281639)_(1355502 82_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 135,281,639 | 135,550,282 |