nsv4452008
- 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:7,332
- Description:NC_000019.10:g.(?_11100203)_(11107534_?)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: 91 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4452008 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 11,100,203 | 11,107,534 |
| nsv4452008 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 11,210,879 | 11,218,210 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15771665 | deletion | Multiple | Multiple | Familial Hypercholesterolemia; Familial hypercholesterolemia; Hypercholesterolemia, familial | Pathogenic | ClinVar | RCV000806566.1, VCV000651247.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15771665 | Submitted genomic | NC_000019.10:g.(?_ 11100203)_(1110753 4_?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 11,100,203 | 11,107,534 |
| nssv15771665 | Submitted genomic | NC_000019.9:g.(?_1 1210879)_(11218210 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 11,210,879 | 11,218,210 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15771665 | GRCh37: NC_000019.9:g.(?_11210879)_(11218210_?)del, GRCh38: NC_000019.10:g.(?_11100203)_(11107534_?)del | deletion | germline | Familial Hypercholesterolemia; Familial hypercholesterolemia; Hypercholesterolemia, familial | Pathogenic | ClinVar | RCV000806566.1, VCV000651247.1 |