nsv949431
- 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:135,416
- 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: 539 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 539 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv949431 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 9,756,765 | 9,892,180 |
| nsv949431 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 9,737,413 | 9,872,828 |
| nsv949431 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000020.9 | Chr20 | 9,685,413 | 9,820,828 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2768118 | copy number gain | SNP array | SNP genotyping analysis | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2768118 | Remapped | Perfect | NC_000020.11:g.(?_ 9756765)_(9892180_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,756,765 | 9,892,180 |
| nssv2768118 | Remapped | Perfect | NC_000020.10:g.(?_ 9737413)_(9872828_ ?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 9,737,413 | 9,872,828 |
| nssv2768118 | Submitted genomic | NC_000020.9:g.(?_9 685413)_(9820828_? )dup | NCBI35 (hg17) | NC_000020.9 | Chr20 | 9,685,413 | 9,820,828 |