nsv6629447
- 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:312,938
- 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: 1046 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1046 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6629447 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 5,446,702 | 5,759,639 |
| nsv6629447 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 5,448,429 | 5,761,366 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18284875 | deletion | OSC2598 | SNP array | Probe signal intensity | nssv18284261, nssv18284262, nssv18284874 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18284875 | Remapped | Perfect | NC_000004.12:g.(?_ 5446702)_(5759639_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 5,446,702 | 5,759,639 |
| nssv18284875 | Submitted genomic | NC_000004.11:g.(?_ 5448429)_(5761366_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 5,448,429 | 5,761,366 |