nsv6289929
- 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:1,483,980
- Description:NC_000022.10:g.21514655_22986816del 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: 6831 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 6882 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6289929 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 21,160,366 | 22,644,345 |
| nsv6289929 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 21,514,655 | 22,986,816 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17955617 | deletion | Multiple | Multiple | CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL; Chromosome 22q11.2 deletion syndrome, distal | Pathogenic | ClinVar | RCV001250235.1, VCV000973580.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955617 | Remapped | Good | NC_000022.11:g.211 60366_22644345del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,160,366 | 22,644,345 |
| nssv17955617 | Submitted genomic | NC_000022.10:g.215 14655_22986816del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 21,514,655 | 22,986,816 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17955617 | GRCh37: NC_000022.10:g.21514655_22986816del | deletion | unknown | CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL; Chromosome 22q11.2 deletion syndrome, distal | Pathogenic | ClinVar | RCV001250235.1, VCV000973580.1 |