nsv6308963
- 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:9,909
- Description:NC_000011.9:g.(?_118209877)_(118219785_?)dup AND Combined immunodeficiency due to CD3gamma deficiency
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 81 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6308963 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 118,339,162 | 118,349,070 |
| nsv6308963 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 118,209,877 | 118,219,785 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970416 | duplication | Multiple | Multiple | IMMUNODEFICIENCY 17; IMD17; Immunodeficiency 17 | Uncertain significance | ClinVar | RCV001910219.2, VCV001408937.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970416 | Remapped | Perfect | NC_000011.10:g.(?_ 118339162)_(118349 070_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 118,339,162 | 118,349,070 |
| nssv17970416 | Submitted genomic | NC_000011.9:g.(?_1 18209877)_(1182197 85_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 118,209,877 | 118,219,785 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970416 | GRCh37: NC_000011.9:g.(?_118209877)_(118219785_?)dup | duplication | germline | IMMUNODEFICIENCY 17; IMD17; Immunodeficiency 17 | Uncertain significance | ClinVar | RCV001910219.2, VCV001408937.2 |