nsv7093382
- 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:2,721,399
- Description:GRCh37/hg19 22q11.21(chr22:18834445-21414817)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: 9736 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 9521 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7093382 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,060,528 |
| nsv7093382 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,834,445 | 21,414,817 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18786377 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002512210.3, VCV001879565.4 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18786377 | Remapped | Pass | NC_000022.11:g.(?_ 18339130)_(2106052 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,060,528 |
| nssv18786377 | Submitted genomic | NC_000022.10:g.(?_ 18834445)_(2141481 7_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,834,445 | 21,414,817 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18786377 | GRCh37: NC_000022.10:g.(?_18834445)_(21414817_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV002512210.3, VCV001879565.4 | 1 |