nsv6622488
- 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:59,310
- 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: 2042 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 2129 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622488 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 19,876,872 | 19,936,181 |
| nsv6622488 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,345,031 | 20,404,340 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18322691 | duplication | OSC1360 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18322691 | Remapped | Perfect | NC_000014.9:g.(?_1 9876872)_(19936181 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,872 | 19,936,181 |
| nssv18322691 | Submitted genomic | NC_000014.8:g.(?_2 0345031)_(20404340 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,345,031 | 20,404,340 |