nsv4385895
- 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:41,342
- 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: 496 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 497 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4385895 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 46,314,101 | 46,355,442 |
| nsv4385895 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 47,734,015 | 47,775,357 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15622278 | copy number gain | 1-0190-002 | SNP array | Genotyping | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15622278 | Remapped | Good | NC_000021.9:g.(?_4 6314101)_(46355442 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 46,314,101 | 46,355,442 |
| nssv15622278 | Submitted genomic | NC_000021.8:g.(?_4 7734015)_(47775357 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 47,734,015 | 47,775,357 |