nsv6629677
- 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:33,095
- 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: 408 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 408 SVs from 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6629677 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 2,980,732 | 3,013,826 |
| nsv6629677 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 2,982,459 | 3,015,553 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18290432 | deletion | OSC3683 | SNP array | Probe signal intensity | nssv18291021, nssv18290690, nssv18290431 |
| nssv18316926 | duplication | OSC0868 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18290432 | Remapped | Perfect | NC_000004.12:g.(?_ 2980732)_(3013826_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 2,980,732 | 3,013,826 |
| nssv18316926 | Remapped | Perfect | NC_000004.12:g.(?_ 2980732)_(3013826_ ?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 2,980,732 | 3,013,826 |
| nssv18290432 | Submitted genomic | NC_000004.11:g.(?_ 2982459)_(3015553_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 2,982,459 | 3,015,553 | ||
| nssv18316926 | Submitted genomic | NC_000004.11:g.(?_ 2982459)_(3015553_ ?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 2,982,459 | 3,015,553 |