nsv5673787
- 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:3,498
- Description:NC_000007.13:g.(?_128475370)_(128478867_?)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: 148 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673787 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 128,835,316 | 128,838,813 |
| nsv5673787 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 128,475,370 | 128,478,867 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172270 | 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 | Likely pathogenic | ClinVar | RCV001379017.1, VCV001067687.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17172270 | Remapped | Perfect | NC_000007.14:g.(?_ 128835316)_(128838 813_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 128,835,316 | 128,838,813 |
| nssv17172270 | Submitted genomic | NC_000007.13:g.(?_ 128475370)_(128478 867_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 128,475,370 | 128,478,867 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172270 | GRCh37: NC_000007.13:g.(?_128475370)_(128478867_?)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 | Likely pathogenic | ClinVar | RCV001379017.1, VCV001067687.1 |