nsv949392
- 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:580,826
- 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: 1857 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1866 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv949392 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 47,514,518 | 48,095,343 |
| nsv949392 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 47,910,267 | 48,491,160 |
| nsv949392 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 46,230,786 | 46,811,679 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2767392 | copy number gain | SNP array | SNP genotyping analysis | 3 |
| nssv2767465 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2767392 | Remapped | Good | NC_000022.11:g.(?_ 47514518)_(4809534 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,514,518 | 48,095,343 |
| nssv2767465 | Remapped | Good | NC_000022.11:g.(?_ 47514518)_(4809534 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,514,518 | 48,095,343 |
| nssv2767392 | Remapped | Perfect | NC_000022.10:g.(?_ 47910267)_(4849116 0_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 47,910,267 | 48,491,160 |
| nssv2767465 | Remapped | Perfect | NC_000022.10:g.(?_ 47910267)_(4849116 0_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 47,910,267 | 48,491,160 |
| nssv2767392 | Submitted genomic | NC_000022.8:g.(?_4 6230786)_(46811679 _?)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,230,786 | 46,811,679 | ||
| nssv2767465 | Submitted genomic | NC_000022.8:g.(?_4 6230786)_(46811679 _?)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,230,786 | 46,811,679 |