nsv6622466
- 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:66,010
- 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: 965 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 986 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622466 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 22,512,890 | 22,578,899 |
| nsv6622466 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 22,981,872 | 23,047,799 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18305297 | duplication | OSC0670 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18305297 | Remapped | Good | NC_000014.9:g.(?_2 2512890)_(22578899 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,512,890 | 22,578,899 |
| nssv18305297 | Submitted genomic | NC_000014.8:g.(?_2 2981872)_(23047799 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,981,872 | 23,047,799 |