nsv4383485
- Organism: Homo sapiens
- Study:nstd173 (Zarrei 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:1,741,981
- Publication(s):Zarrei 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: 9666 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 9596 SVs from 117 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4383485 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 136,167,429 | 137,909,409 |
| nsv4383485 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 139,059,275 | 140,803,861 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15658764 | copy number gain | 3-0603-000 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15658764 | Remapped | Good | NC_000009.12:g.(?_ 136167429)_(137909 409_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 136,167,429 | 137,909,409 |
| nssv15658764 | Submitted genomic | NC_000009.11:g.(?_ 139059275)_(140803 861_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 139,059,275 | 140,803,861 |