nsv3317492
- 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:76,298
- 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: 677 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 677 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3317492 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 3,922,266 | 3,998,563 |
| nsv3317492 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 3,963,950 | 4,040,247 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14469688 | copy number loss | M2258 | SNP array | SNP genotyping analysis | 31 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14469688 | Remapped | Perfect | NC_000003.12:g.(?_ 3922266)_(3998563_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 3,922,266 | 3,998,563 |
| nssv14469688 | Submitted genomic | NC_000003.11:g.(?_ 3963950)_(4040247_ ?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 3,963,950 | 4,040,247 |