nsv6632568
- 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:757,941
- 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: 3662 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 3721 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632568 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 142,558,109 | 143,316,049 |
| nsv6632568 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 143,639,470 | 144,398,219 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18309893 | duplication | OSC7104 | SNP array | Probe signal intensity | 13 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18309893 | Remapped | Good | NC_000008.11:g.(?_ 142558109)_(143316 049_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,558,109 | 143,316,049 |
| nssv18309893 | Submitted genomic | NC_000008.10:g.(?_ 143639470)_(144398 219_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,639,470 | 144,398,219 |