nsv3318503
- 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:33,608
- 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: 263 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 259 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318503 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 43,189,967 | 43,223,574 |
| nsv3318503 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 41,341,984 | 41,375,597 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14470633 | copy number gain | M2363 | SNP array | SNP genotyping analysis | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14470633 | Remapped | Good | NC_000017.11:g.(?_ 43189967)_(4322357 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,189,967 | 43,223,574 |
| nssv14470633 | Submitted genomic | NC_000017.10:g.(?_ 41341984)_(4137559 7_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,341,984 | 41,375,597 |