nsv6632775
- 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:120,588
- 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: 615 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 615 SVs from 55 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632775 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 17,554,631 | 17,675,218 |
| nsv6632775 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 17,412,140 | 17,532,727 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18290112 | duplication | OSC3485 | SNP array | Probe signal intensity | 13 |
| nssv18320472 | duplication | OSC0922 | SNP array | Probe signal intensity | nssv18319827, nssv18319832, nssv18319837 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18290112 | Remapped | Perfect | NC_000008.11:g.(?_ 17554631)_(1767521 8_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 17,554,631 | 17,675,218 |
| nssv18320472 | Remapped | Perfect | NC_000008.11:g.(?_ 17554631)_(1767521 8_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 17,554,631 | 17,675,218 |
| nssv18290112 | Submitted genomic | NC_000008.10:g.(?_ 17412140)_(1753272 7_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 17,412,140 | 17,532,727 | ||
| nssv18320472 | Submitted genomic | NC_000008.10:g.(?_ 17412140)_(1753272 7_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 17,412,140 | 17,532,727 |