nsv6627017
- 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:62,735
- 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: 327 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 329 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627017 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 42,413,171 | 42,475,905 |
| nsv6627017 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 43,833,280 | 43,896,015 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18300540 | duplication | OSC5500 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18300540 | Remapped | Good | NC_000021.9:g.(?_4 2413171)_(42475905 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 42,413,171 | 42,475,905 |
| nssv18300540 | Submitted genomic | NC_000021.8:g.(?_4 3833280)_(43896015 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 43,833,280 | 43,896,015 |