nsv6314711
- 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:62
- Description:NM_001572.5(IRF7):c.1357-75_1357-14del AND Immunodeficiency 39
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 223 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 223 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6314711 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 612,814 | 612,875 |
| nsv6314711 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 612,814 | 612,875 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976129 | deletion | Multiple | Multiple | IMMUNODEFICIENCY 39; IMD39; Immunodeficiency 39 | Likely benign | ClinVar | RCV002128982.4, VCV001639349.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17976129 | Submitted genomic | NC_000011.10:g.612 814_612875del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 612,814 | 612,875 |
| nssv17976129 | Submitted genomic | NC_000011.9:g.6128 14_612875del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 612,814 | 612,875 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976129 | GRCh37: NC_000011.9:g.612814_612875del, GRCh38: NC_000011.10:g.612814_612875del | deletion | germline | IMMUNODEFICIENCY 39; IMD39; Immunodeficiency 39 | Likely benign | ClinVar | RCV002128982.4, VCV001639349.5 |