nsv6631119
- 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:530,566
- 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: 2412 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2229 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6631119 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 167,272,200 | 167,802,765 |
| nsv6631119 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 167,685,688 | 168,203,445 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18322388 | duplication | OSC0142 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18322388 | Remapped | Good | NC_000006.12:g.(?_ 167272200)_(167802 765_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,272,200 | 167,802,765 |
| nssv18322388 | Submitted genomic | NC_000006.11:g.(?_ 167685688)_(168203 445_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 167,685,688 | 168,203,445 |