nsv4436778
- 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:3,292,201
- Description:GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 AND multiple conditions
- 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: 11062 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 11243 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4436778 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,153,982 | 21,446,182 |
| nsv4436778 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,636,749 | 21,800,471 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15755813 | copy number loss | Multiple | Multiple | 22q11.2 Deletion Syndrome; 22q11.2 deletion syndrome; DIGEORGE SYNDROME; DGS; DiGeorge sequence; Shprintzen syndrome; VELOCARDIOFACIAL SYNDROME; VCFS | Pathogenic | ClinVar | RCV000788059.2, VCV000636283.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15755813 | Remapped | Good | NC_000022.11:g.(?_ 18153982)_(2144618 2_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,153,982 | 21,446,182 |
| nssv15755813 | Submitted genomic | NC_000022.10:g.(?_ 18636749)_(2180047 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,636,749 | 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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15755813 | GRCh37: NC_000022.10:g.(?_18636749)_(21800471_?)del | copy number loss | maternal | 22q11.2 Deletion Syndrome; 22q11.2 deletion syndrome; DIGEORGE SYNDROME; DGS; DiGeorge sequence; Shprintzen syndrome; VELOCARDIOFACIAL SYNDROME; VCFS | Pathogenic | ClinVar | RCV000788059.2, VCV000636283.2 | 1 |