nsv6628412
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:115,028
- 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: 379 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 379 SVs from 53 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628412 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 81,978,503 | 82,093,530 |
| nsv6628412 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 82,205,627 | 82,320,654 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282987 | duplication | OSC2347 | SNP array | Probe signal intensity | 5 |
| nssv18292208 | duplication | OSC3877 | SNP array | Probe signal intensity | nssv18291624, nssv18292521 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282987 | Remapped | Perfect | NC_000002.12:g.(?_ 81978503)_(8209353 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 81,978,503 | 82,093,530 |
| nssv18292208 | Remapped | Perfect | NC_000002.12:g.(?_ 81978503)_(8209353 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 81,978,503 | 82,093,530 |
| nssv18282987 | Submitted genomic | NC_000002.11:g.(?_ 82205627)_(8232065 4_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 82,205,627 | 82,320,654 | ||
| nssv18292208 | Submitted genomic | NC_000002.11:g.(?_ 82205627)_(8232065 4_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 82,205,627 | 82,320,654 |