nsv4370617
- 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:144,514
- 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: 734 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 1089 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4370617 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 54,782,219 | 54,926,732 |
| nsv4370617 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 51,183,549 | 51,337,061 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15672766 | copy number gain | 9-0002-001 | SNP array | Genotyping | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15672766 | Remapped | Pass | NC_000011.10:g.(?_ 54782219)_(5492673 2_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,782,219 | 54,926,732 |
| nssv15672766 | Submitted genomic | NC_000011.9:g.(?_5 1183549)_(51337061 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 51,183,549 | 51,337,061 |