nsv4682620
- 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:11,055
- Description:NC_000019.10:g.(?_55140873)_(55151927_?)del 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: 136 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4682620 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 55,140,873 | 55,151,927 |
| nsv4682620 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,652,241 | 55,663,295 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214744 | deletion | Multiple | Multiple | Cardiomyopathy, Hypertrophic; Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy | Uncertain significance | ClinVar | RCV001031103.2, VCV000830474.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214744 | Remapped | Perfect | NC_000019.10:g.(?_ 55140873)_(5515192 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 55,140,873 | 55,151,927 |
| nssv16214744 | Submitted genomic | NC_000019.9:g.(?_5 5652241)_(55663295 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,652,241 | 55,663,295 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214744 | GRCh37: NC_000019.9:g.(?_55652241)_(55663295_?)del | deletion | germline | Cardiomyopathy, Hypertrophic; Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy | Uncertain significance | ClinVar | RCV001031103.2, VCV000830474.2 |