nsv7096227
- 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:6,523
- Description:NC_000002.11:g.(?_203378422)_(203384944_?)del AND Primary pulmonary hypertension
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 107 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7096227 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 202,513,699 | 202,520,221 |
| nsv7096227 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 203,378,422 | 203,384,944 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18791763 | deletion | Multiple | Multiple | Primary pulmonary hypertension; Pulmonary arterial hypertension | Pathogenic | ClinVar | RCV003105669.2, VCV002423974.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18791763 | Remapped | Perfect | NC_000002.12:g.(?_ 202513699)_(202520 221_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 202,513,699 | 202,520,221 |
| nssv18791763 | Submitted genomic | NC_000002.11:g.(?_ 203378422)_(203384 944_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 203,378,422 | 203,384,944 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18791763 | GRCh37: NC_000002.11:g.(?_203378422)_(203384944_?)del | deletion | germline | Primary pulmonary hypertension; Pulmonary arterial hypertension | Pathogenic | ClinVar | RCV003105669.2, VCV002423974.2 |