nsv4683557
- 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:725,509
- Description:NC_000009.12:g.(?_127815672)_(128541180_?)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: 2604 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 2606 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683557 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 127,815,672 | 128,541,180 |
| nsv4683557 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,577,951 | 131,303,459 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214003 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001032461.2, VCV000831938.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214003 | Remapped | Perfect | NC_000009.12:g.(?_ 127815672)_(128541 180_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 127,815,672 | 128,541,180 |
| nssv16214003 | Submitted genomic | NC_000009.11:g.(?_ 130577951)_(131303 459_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,577,951 | 131,303,459 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214003 | GRCh37: NC_000009.11:g.(?_130577951)_(131303459_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001032461.2, VCV000831938.2 |