nsv6626863
- 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:132,642
- 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: 538 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 538 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626863 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 24,138,279 | 24,270,920 |
| nsv6626863 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 25,510,593 | 25,643,233 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18300325 | duplication | OSC5529 | SNP array | Probe signal intensity | nssv18300930, nssv18301223 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18300325 | Remapped | Good | NC_000021.9:g.(?_2 4138279)_(24270920 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 24,138,279 | 24,270,920 |
| nssv18300325 | Submitted genomic | NC_000021.8:g.(?_2 5510593)_(25643233 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 25,510,593 | 25,643,233 |