nsv6621172
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:201,953
- Publication(s):Zarrei et al. 2023
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: 666 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 666 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6621172 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 46,542,503 | 46,744,455 |
| nsv6621172 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 46,564,053 | 46,766,005 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18299585 | duplication | OSC5207 | SNP array | Probe signal intensity | nssv18299245, nssv18299246, nssv18299247 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18299585 | Remapped | Perfect | NC_000011.10:g.(?_ 46542503)_(4674445 5_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 46,542,503 | 46,744,455 |
| nssv18299585 | Submitted genomic | NC_000011.9:g.(?_4 6564053)_(46766005 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 46,564,053 | 46,766,005 |