nsv3879425
- 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:355,936
- Description:NC_000001.10:g.(?_236849954)_(237205889_?)dup AND multiple conditions
- Publication(s):Ackerman et al. 2011, Authors/Task Force members et al. 2014, Cirino et al. 2008, Hershberger et al. 2007, Maron et al. 2003
- ClinVar: RCV000543238.1
- ClinVar: VCV000463185.1
- MONDO: 0012808
- MONDO: 0024573
- MeSH: D024741
- MedGen: C0949658
- MedGen: C2677338
- OMIM: 102573.0005
- OMIM: 102573.0007
- OMIM: 192600
- OMIM: 612158
- OMIM: PS192600
- Orphanet: 154
- PubMed: 14607462
- PubMed: 20301486
- PubMed: 20301725
- PubMed: 21810866
- PubMed: 25173338
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1048 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1049 SVs from 81 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3879425 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 236,686,654 | 237,042,589 |
| nsv3879425 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 236,849,954 | 237,205,889 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15129272 | duplication | Multiple | Multiple | CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1; Cardiomyopathy, Hypertrophic, Familial; Cardiomyopathy, familial hypertrophic; Dilated cardiomyopathy 1AA; Familial isolated dilated cardiomyopathy; Primary familial hypertrophic cardiomyopathy; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV000543238.1, VCV000463185.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15129272 | Submitted genomic | NC_000001.11:g.(?_ 236686654)_(237042 589_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 236,686,654 | 237,042,589 |
| nssv15129272 | Submitted genomic | NC_000001.10:g.(?_ 236849954)_(237205 889_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 236,849,954 | 237,205,889 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15129272 | GRCh37: NC_000001.10:g.(?_236849954)_(237205889_?)dup, GRCh38: NC_000001.11:g.(?_236686654)_(237042589_?)dup | duplication | germline | CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1; Cardiomyopathy, Hypertrophic, Familial; Cardiomyopathy, familial hypertrophic; Dilated cardiomyopathy 1AA; Familial isolated dilated cardiomyopathy; Primary familial hypertrophic cardiomyopathy; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV000543238.1, VCV000463185.1 |