nsv6635631
- 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:158,735
- 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: 1193 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 289 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 1121 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6635631 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 144,351,265 | - | 144,509,999 |
| nsv6635631 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654716.1 | Chr8|NW_01 8654716.1 | 81,868 | 165,120 | - |
| nsv6635631 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 145,574,930 | - | 145,735,382 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18326800 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv18326800 | Remapped | Pass | NW_018654716.1:g.( 81868_?)_(165120_? )dup | GRCh38.p12 | Second Pass | NW_018654716.1 | Chr8|NW_01 8654716.1 | 81,868 | 165,120 | - |
| nssv18326800 | Remapped | Good | NC_000008.11:g.(14 4351265_?)_(?_1445 09999)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,351,265 | - | 144,509,999 |
| nssv18326800 | Submitted genomic | NC_000008.10:g.(14 5574930_?)_(?_1457 35382)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 145,574,930 | - | 145,735,382 |