nsv6289935
- 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:15,836
- Description:NC_000009.12:g.127814980_127830815del AND Telangiectasia, hereditary hemorrhagic, type 1
- Publication(s):Faughnan et al. 2009, Faughnan et al. 2020, McDonald et al. 2000, Miller et al. 2021, Miller et al. 2022, Shovlin et al. 2000
- 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 30 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6289935 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 127,814,980 | 127,830,815 |
| nsv6289935 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,577,259 | 130,593,094 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16296932 | deletion | Multiple | Multiple | Hereditary Hemorrhagic Telangiectasia; Hereditary hemorrhagic telangiectasia; Hereditary hemorrhagic telangiectasia type 1; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT | Pathogenic | ClinVar | RCV001262040.1, VCV000982458.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16296932 | Submitted genomic | NC_000009.12:g.127 814980_127830815de l | GRCh38 (hg38) | NC_000009.12 | Chr9 | 127,814,980 | 127,830,815 |
| nssv16296932 | Submitted genomic | NC_000009.11:g.130 577259_130593094de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,577,259 | 130,593,094 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16296932 | GRCh37: NC_000009.11:g.130577259_130593094del, GRCh38: NC_000009.12:g.127814980_127830815del | deletion | unknown | Hereditary Hemorrhagic Telangiectasia; Hereditary hemorrhagic telangiectasia; Hereditary hemorrhagic telangiectasia type 1; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT | Pathogenic | ClinVar | RCV001262040.1, VCV000982458.1 |