nsv6635991
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,681
- Description:NC_000010.10:g.121434542_121438222del AND Dilated cardiomyopathy 1HH
- Publication(s):Hershberger et al. 2007, Miller et al. 2022
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 82 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6635991 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 119,675,030 | 119,678,710 |
| nsv6635991 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 121,434,542 | 121,438,222 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18329422 | deletion | Multiple | Multiple | CARDIOMYOPATHY, DILATED, 1HH; CMD1HH; Dilated cardiomyopathy 1HH; Familial isolated dilated cardiomyopathy | Pathogenic | ClinVar | RCV002468882.1, VCV001804144.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18329422 | Submitted genomic | NC_000010.11:g.119 675030_119678710de l | GRCh38 (hg38) | NC_000010.11 | Chr10 | 119,675,030 | 119,678,710 |
| nssv18329422 | Submitted genomic | NC_000010.10:g.121 434542_121438222de l | GRCh37 (hg19) | NC_000010.10 | Chr10 | 121,434,542 | 121,438,222 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18329422 | GRCh37: NC_000010.10:g.121434542_121438222del, GRCh38: NC_000010.11:g.119675030_119678710del | deletion | paternal | CARDIOMYOPATHY, DILATED, 1HH; CMD1HH; Dilated cardiomyopathy 1HH; Familial isolated dilated cardiomyopathy | Pathogenic | ClinVar | RCV002468882.1, VCV001804144.1 |