nsv4436308
- 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:1,165,870
- Description:NC_000022.10:g.21808950_22963000del1154051 AND Chromosome 22q11.2 deletion syndrome, distal
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5952 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 5995 SVs from 123 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4436308 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 21,454,661 | 22,620,530 |
nsv4436308 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 21,808,950 | 22,963,000 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15754925 | deletion | Multiple | Multiple | CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL; Chromosome 22q11.2 deletion syndrome, distal | Pathogenic | ClinVar | RCV000785668.2, VCV000599193.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15754925 | Remapped | Good | NC_000022.11:g.214 54661_22620530del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,454,661 | 22,620,530 |
nssv15754925 | Submitted genomic | NC_000022.10:g.218 08950_22963000del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 21,808,950 | 22,963,000 |
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 |
---|---|---|---|---|---|---|---|
nssv15754925 | GRCh37: NC_000022.10:g.21808950_22963000del | deletion | de novo | CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL; Chromosome 22q11.2 deletion syndrome, distal | Pathogenic | ClinVar | RCV000785668.2, VCV000599193.2 |