nsv6315032
- 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:1,675
- Description:NM_000629.3(IFNAR1):c.1440+331_*239del AND Immunodeficiency 106, susceptibility to viral infections
- Publication(s):Bastard et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 102 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6315032 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 33,354,082 | 33,355,756 |
| nsv6315032 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 34,726,388 | 34,728,062 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976545 | deletion | Multiple | Multiple | IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD106; Immunodeficiency 106, susceptibility to viral infections | risk factor | ClinVar | RCV002260526.1, VCV001693255.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17976545 | Submitted genomic | NC_000021.9:g.3335 4082_33355756del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 33,354,082 | 33,355,756 |
| nssv17976545 | Submitted genomic | NC_000021.8:g.3472 6388_34728062del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 34,726,388 | 34,728,062 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976545 | GRCh37: NC_000021.8:g.34726388_34728062del, GRCh38: NC_000021.9:g.33354082_33355756del | deletion | germline | IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD106; Immunodeficiency 106, susceptibility to viral infections | risk factor | ClinVar | RCV002260526.1, VCV001693255.1 |