nsv6309068
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:379,777
- Description:NC_000010.10:g.(?_55616925)_(55996701_?)del AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1282 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1285 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6309068 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 53,857,165 | 54,236,941 |
| nsv6309068 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 55,616,925 | 55,996,701 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17971753 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001958990.2, VCV001459429.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17971753 | Remapped | Perfect | NC_000010.11:g.(?_ 53857165)_(5423694 1_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 53,857,165 | 54,236,941 |
| nssv17971753 | Submitted genomic | NC_000010.10:g.(?_ 55616925)_(5599670 1_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 55,616,925 | 55,996,701 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17971753 | GRCh37: NC_000010.10:g.(?_55616925)_(55996701_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001958990.2, VCV001459429.2 |