nsv5673850
- 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:11,339
- Description:NC_000007.13:g.(?_73471702)_(73483040_?)del AND Supravalvar aortic stenosis
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 178 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 157 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673850 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 74,057,372 | 74,068,710 |
| nsv5673850 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 73,471,702 | 73,483,040 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172746 | deletion | Multiple | Multiple | SUPRAVALVULAR AORTIC STENOSIS; SVAS; Supravalvar aortic stenosis; Supravalvular aortic stenosis; Supravalvular aortic stenosis | Pathogenic | ClinVar | RCV001384000.5, VCV001071516.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17172746 | Remapped | Perfect | NC_000007.14:g.(?_ 74057372)_(7406871 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 74,057,372 | 74,068,710 |
| nssv17172746 | Submitted genomic | NC_000007.13:g.(?_ 73471702)_(7348304 0_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 73,471,702 | 73,483,040 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172746 | GRCh37: NC_000007.13:g.(?_73471702)_(73483040_?)del | deletion | germline | SUPRAVALVULAR AORTIC STENOSIS; SVAS; Supravalvar aortic stenosis; Supravalvular aortic stenosis; Supravalvular aortic stenosis | Pathogenic | ClinVar | RCV001384000.5, VCV001071516.5 |