nsv4387546
- 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:3,278,119
- 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: 7083 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 7077 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4387546 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 64,110,782 | 67,388,900 |
| nsv4387546 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 65,023,339 | 68,301,135 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15653925 | copy number loss | 2-1617-003 | SNP array | Genotyping | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15653925 | Remapped | Good | NC_000008.11:g.(?_ 64110782)_(6738890 0_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 64,110,782 | 67,388,900 |
| nssv15653925 | Submitted genomic | NC_000008.10:g.(?_ 65023339)_(6830113 5_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 65,023,339 | 68,301,135 |