nsv491538
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,772,254
- Description:22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1)
- Publication(s):Firth et al. 2009, McDonald-McGinn et al. 1999, McDonald-McGinn et al. 2015, Ou et al. 2008, Portnoï et al. 2009, Riggs et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9556 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 8670 SVs from 120 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 |
---|---|---|---|---|---|---|---|---|---|
nsv491538 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,111,383 |
nsv491538 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,912,231 | 21,465,672 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
---|---|---|---|---|---|---|---|
nssv1184572 | copy number loss | Curated | Curated | DIGEORGE SYNDROME; DGS | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
nssv1184573 | copy number gain | Curated | Curated | CHROMOSOME 22q11.2 DUPLICATION SYNDROME | Pathogenic | ClinGen Dosage Sensitivity Map | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1184572 | Remapped | Pass | NC_000022.11:g.(?_ 18339130)_(2111138 3_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,111,383 |
nssv1184573 | Remapped | Pass | NC_000022.11:g.(?_ 18339130)_(2111138 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,111,383 |
nssv1184572 | Submitted genomic | NC_000022.10:g.(?_ 18912231)_(2146567 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,912,231 | 21,465,672 | ||
nssv1184573 | Submitted genomic | NC_000022.10:g.(?_ 18912231)_(2146567 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,912,231 | 21,465,672 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
---|---|---|---|---|---|---|
nssv1184572 | GRCh37: NC_000022.10:g.(?_18912231)_(21465672_?)del | copy number loss | DIGEORGE SYNDROME; DGS | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
nssv1184573 | GRCh37: NC_000022.10:g.(?_18912231)_(21465672_?)dup | copy number gain | CHROMOSOME 22q11.2 DUPLICATION SYNDROME | Pathogenic | ClinGen Dosage Sensitivity Map | 3 |