nsv6626853
- 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:37,138
- 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: 373 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 366 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626853 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 14,073,147 | 14,110,284 |
| nsv6626853 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 15,445,468 | 15,482,605 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18299927 | deletion | OSC5242 | SNP array | Probe signal intensity | nssv18299926 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18299927 | Remapped | Perfect | NC_000021.9:g.(?_1 4073147)_(14110284 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 14,073,147 | 14,110,284 |
| nssv18299927 | Submitted genomic | NC_000021.8:g.(?_1 5445468)_(15482605 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,445,468 | 15,482,605 |