nsv3317312
- 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:49,178
- 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: 463 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 469 SVs from 55 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3317312 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 17,583,848 | 17,633,025 |
| nsv3317312 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 17,583,846 | 17,633,023 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14470931 | copy number gain | M2393 | SNP array | SNP genotyping analysis | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14470931 | Remapped | Perfect | NC_000009.12:g.(?_ 17583848)_(1763302 5_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 17,583,848 | 17,633,025 |
| nssv14470931 | Submitted genomic | NC_000009.11:g.(?_ 17583846)_(1763302 3_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 17,583,846 | 17,633,023 |