nsv949740
- 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:634,413
- 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: 1530 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 1531 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv949740 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 171,440,511 | 172,074,923 |
| nsv949740 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 171,158,300 | 171,792,713 |
| nsv949740 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000003.9 | Chr3 | 172,641,002 | 173,275,415 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2768491 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2768491 | Remapped | Perfect | NC_000003.12:g.(?_ 171440511)_(172074 923_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 171,440,511 | 172,074,923 |
| nssv2768491 | Remapped | Perfect | NC_000003.11:g.(?_ 171158300)_(171792 713_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 171,158,300 | 171,792,713 |
| nssv2768491 | Submitted genomic | NC_000003.9:g.(?_1 72641002)_(1732754 15_?)dup | NCBI35 (hg17) | NC_000003.9 | Chr3 | 172,641,002 | 173,275,415 |