nsv4452758
- 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:536
- Description:NC_000007.13:g.(?_128498052)_(128498587_?)dup 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 | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4452758 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 128,857,998 | 128,858,533 |
| nsv4452758 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 128,498,052 | 128,498,587 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15770067 | duplication | 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 | Uncertain significance | ClinVar | RCV000794816.3, VCV000641550.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15770067 | Submitted genomic | NC_000007.14:g.(?_ 128857998)_(128858 533_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 128,857,998 | 128,858,533 |
| nssv15770067 | Submitted genomic | NC_000007.13:g.(?_ 128498052)_(128498 587_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 128,498,052 | 128,498,587 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15770067 | GRCh37: NC_000007.13:g.(?_128498052)_(128498587_?)dup, GRCh38: NC_000007.14:g.(?_128857998)_(128858533_?)dup | duplication | 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 | Uncertain significance | ClinVar | RCV000794816.3, VCV000641550.3 |