nsv5674026
- 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:30,846
- Description:NC_000007.13:g.(?_128469483)_(128500328_?)del AND multiple conditions
- Publication(s):Miller et al. 2021, 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: 209 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 209 SVs from 46 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5674026 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 128,829,429 | 128,860,274 |
nsv5674026 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 128,469,483 | 128,500,328 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17172808 | deletion | Multiple | Multiple | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant; Distal myopathy with posterior leg and anterior hand involvement; Familial isolated restrictive cardiomyopathy; MYOPATHY, DISTAL, 4; MPD4; MYOPATHY, MYOFIBRILLAR, 5; MFM5; Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4 | Pathogenic | ClinVar | RCV001384408.2, VCV001071864.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17172808 | Remapped | Perfect | NC_000007.14:g.(?_ 128829429)_(128860 274_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 128,829,429 | 128,860,274 |
nssv17172808 | Submitted genomic | NC_000007.13:g.(?_ 128469483)_(128500 328_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 128,469,483 | 128,500,328 |
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 |
---|---|---|---|---|---|---|---|
nssv17172808 | GRCh37: NC_000007.13:g.(?_128469483)_(128500328_?)del | deletion | germline | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant; Distal myopathy with posterior leg and anterior hand involvement; Familial isolated restrictive cardiomyopathy; MYOPATHY, DISTAL, 4; MPD4; MYOPATHY, MYOFIBRILLAR, 5; MFM5; Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4 | Pathogenic | ClinVar | RCV001384408.2, VCV001071864.2 |