nsv3908988
- 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:3,284,160
- Description:GRCh37/hg19 22q11.21(chr22:18644790-21800471) AND DiGeorge syndrome
- Publication(s):Fokstuen et al. 2001, Fung et al. 2015, Gregg et al. 2016, McDonald-McGinn et al. 1999
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 11036 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 11217 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3908988 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,162,023 | 21,446,182 |
| nsv3908988 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,644,790 | 21,800,471 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976891 | copy number loss | Multiple | Multiple | 22q11.2 Deletion Syndrome; 22q11.2 deletion syndrome; DIGEORGE SYNDROME; DGS; DiGeorge sequence | Pathogenic | ClinVar | RCV002280730.1, VCV001703642.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976891 | Remapped | Good | NC_000022.11:g.(?_ 18162023)_(2144618 2_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,162,023 | 21,446,182 |
| nssv17976891 | Submitted genomic | NC_000022.10:g.(?_ 18644790)_(2180047 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,644,790 | 21,800,471 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976891 | GRCh37: NC_000022.10:g.(?_18644790)_(21800471_?)del | copy number loss | unknown | 22q11.2 Deletion Syndrome; 22q11.2 deletion syndrome; DIGEORGE SYNDROME; DGS; DiGeorge sequence | Pathogenic | ClinVar | RCV002280730.1, VCV001703642.1 |