nsv4385813
- 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:33,043,336
- 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: 104406 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 104490 SVs from 146 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4385813 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 13,634,137 | 46,677,472 |
| nsv4385813 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 15,006,458 | 48,097,384 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15668039 | copy number gain | 7-0164-003 | SNP array | Genotyping | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15668039 | Remapped | Good | NC_000021.9:g.(?_1 3634137)_(46677472 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,634,137 | 46,677,472 |
| nssv15668039 | Submitted genomic | NC_000021.8:g.(?_1 5006458)_(48097384 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,006,458 | 48,097,384 |