nsv6634782
- Organism: Homo sapiens
- Study:nstd227 (Kikas 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:187,499
- Publication(s):Kikas 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: 2292 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 2292 SVs from 104 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634782 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 7,782,498 | 7,969,996 |
| nsv6634782 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 7,935,094 | 8,122,592 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18327179 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18327179 | Remapped | Perfect | NC_000012.12:g.(77 82498_?)_(?_796999 6)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,782,498 | 7,969,996 |
| nssv18327179 | Submitted genomic | NC_000012.11:g.(79 35094_?)_(?_812259 2)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,935,094 | 8,122,592 |