nsv5381030
- 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:770
- Description:NC_000017.10:g.(?_37821603)_(37822372_?)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: RCV001351558.1
- ClinVar: VCV001046933.1
- MONDO: 0011843
- MONDO: 0024573
- MeSH: D024741
- MedGen: C0949658
- MedGen: C4225408
- OMIM: 192600
- OMIM: 604488.0004
- OMIM: 604488.0005
- OMIM: 604488.0006
- OMIM: 607487
- OMIM: PS192600
- 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: 132 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381030 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 39,665,350 | 39,666,119 |
| nsv5381030 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 37,821,603 | 37,822,372 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867336 | duplication | Multiple | Multiple | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25; CMH25; Cardiomyopathy, Hypertrophic, Familial; Cardiomyopathy, familial hypertrophic; Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001351558.1, VCV001046933.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867336 | Remapped | Perfect | NC_000017.11:g.(?_ 39665350)_(3966611 9_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 39,665,350 | 39,666,119 |
| nssv16867336 | Submitted genomic | NC_000017.10:g.(?_ 37821603)_(3782237 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 37,821,603 | 37,822,372 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867336 | GRCh37: NC_000017.10:g.(?_37821603)_(37822372_?)dup | duplication | germline | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25; CMH25; Cardiomyopathy, Hypertrophic, Familial; Cardiomyopathy, familial hypertrophic; Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001351558.1, VCV001046933.1 |