nsv3317530
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:245,136
- Publication(s):Frenkel et al. 2019
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: 2947 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 2947 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3317530 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 48,656,442 | 48,901,577 |
| nsv3317530 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 48,677,994 | 48,923,129 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14467619 | copy number loss | M1206 | SNP array | SNP genotyping analysis | 63 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14467619 | Remapped | Perfect | NC_000011.10:g.(?_ 48656442)_(4890157 7_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 48,656,442 | 48,901,577 |
| nssv14467619 | Submitted genomic | NC_000011.9:g.(?_4 8677994)_(48923129 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 48,677,994 | 48,923,129 |