nsv7148280
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,095,378
- Description:GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1 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: 7760 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 8844 SVs from 126 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148280 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 18,985,739 | 21,081,116 | ||
| nsv7148280 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 18,973,252 | 21,435,405 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841927 | copy number loss | Multiple | Multiple | 22q11.2 Deletion Syndrome; 22q11.2 deletion syndrome; DIGEORGE SYNDROME; DGS; DiGeorge sequence | Pathogenic | ClinVar | RCV003327705.1, VCV002579266.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841927 | Submitted genomic | NC_000022.11:g.189 85739_21081116del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 18,985,739 | 21,081,116 | ||
| nssv18841927 | Remapped | Pass | NC_000022.10:g.189 73252_21435405del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 18,973,252 | 21,435,405 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841927 | GRCh38: NC_000022.11:g.18985739_21081116del | copy number loss | de novo | 22q11.2 Deletion Syndrome; 22q11.2 deletion syndrome; DIGEORGE SYNDROME; DGS; DiGeorge sequence | Pathogenic | ClinVar | RCV003327705.1, VCV002579266.1 | 1 |