nsv5673382
- 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:18,050
- Description:NC_000019.9:g.(?_11223948)_(11241997_?)del AND Familial hypercholesterolemia
- Publication(s):Youngblom et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 158 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673382 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 11,113,272 | 11,131,321 |
| nsv5673382 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 11,223,948 | 11,241,997 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17173111 | deletion | Multiple | Multiple | Familial Hypercholesterolemia; Familial hypercholesterolemia; Hypercholesterolemia, familial | Pathogenic | ClinVar | RCV001388220.1, VCV001074805.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17173111 | Remapped | Perfect | NC_000019.10:g.(?_ 11113272)_(1113132 1_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 11,113,272 | 11,131,321 |
| nssv17173111 | Submitted genomic | NC_000019.9:g.(?_1 1223948)_(11241997 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 11,223,948 | 11,241,997 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17173111 | GRCh37: NC_000019.9:g.(?_11223948)_(11241997_?)del | deletion | germline | Familial Hypercholesterolemia; Familial hypercholesterolemia; Hypercholesterolemia, familial | Pathogenic | ClinVar | RCV001388220.1, VCV001074805.1 |