nsv6626815
- 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:464,610
- 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: 1719 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1732 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626815 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 12,987,573 | 13,452,182 |
| nsv6626815 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 14,359,894 | 14,824,503 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18303260 | duplication | OSC5894 | SNP array | Probe signal intensity | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18303260 | Remapped | Perfect | NC_000021.9:g.(?_1 2987573)_(13452182 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 12,987,573 | 13,452,182 |
| nssv18303260 | Submitted genomic | NC_000021.8:g.(?_1 4359894)_(14824503 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,359,894 | 14,824,503 |