nsv4681884
- 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:2,299
- Description:NM_000257.4(MYH7):c.895+43_1518del AND Hypertrophic cardiomyopathy
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 43 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4681884 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 23,428,560 | 23,430,858 |
| nsv4681884 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 23,897,769 | 23,900,067 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214842 | deletion | Multiple | Multiple | Cardiomyopathy, Hypertrophic; Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy | Uncertain significance | ClinVar | RCV001060117.1, VCV000854961.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16214842 | Submitted genomic | NC_000014.9:g.2342 8560_23430858del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 23,428,560 | 23,430,858 |
| nssv16214842 | Submitted genomic | NC_000014.8:g.2389 7769_23900067del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 23,897,769 | 23,900,067 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214842 | GRCh37: NC_000014.8:g.23897769_23900067del, GRCh38: NC_000014.9:g.23428560_23430858del | deletion | germline | Cardiomyopathy, Hypertrophic; Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy | Uncertain significance | ClinVar | RCV001060117.1, VCV000854961.1 |