nsv6637364
- 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:3,284,733
- Description:GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 11038 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 11219 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6637364 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,161,776 | 21,446,508 |
nsv6637364 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,644,543 | 21,800,797 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18330227 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002473959.1, VCV001808642.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18330227 | Remapped | Good | NC_000022.11:g.(?_ 18161776)_(2144650 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,161,776 | 21,446,508 |
nssv18330227 | Submitted genomic | NC_000022.10:g.(?_ 18644543)_(2180079 7_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,644,543 | 21,800,797 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18330227 | GRCh37: NC_000022.10:g.(?_18644543)_(21800797_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002473959.1, VCV001808642.1 | 1 |