nsv949681
- 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:342,893
- 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: 1119 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1128 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 48 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv949681 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 47,725,303 | 48,068,195 |
| nsv949681 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 48,121,052 | 48,464,012 |
| nsv949681 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 46,441,571 | 46,784,531 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2768424 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2768424 | Remapped | Good | NC_000022.11:g.(?_ 47725303)_(4806819 5_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,725,303 | 48,068,195 |
| nssv2768424 | Remapped | Perfect | NC_000022.10:g.(?_ 48121052)_(4846401 2_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,121,052 | 48,464,012 |
| nssv2768424 | Submitted genomic | NC_000022.8:g.(?_4 6441571)_(46784531 _?)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,441,571 | 46,784,531 |