nsv6291464
- 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:3,124,452
- Description:GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3 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: 14162 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 15111 SVs from 142 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291464 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 21,111,372 | 24,235,823 |
| nsv6291464 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 21,465,661 | 24,631,791 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956393 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001836553.1, VCV001340764.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956393 | Remapped | Good | NC_000022.11:g.(?_ 21111372)_(2423582 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,111,372 | 24,235,823 |
| nssv17956393 | Submitted genomic | NC_000022.10:g.(?_ 21465661)_(2463179 1_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 21,465,661 | 24,631,791 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956393 | GRCh37: NC_000022.10:g.(?_21465661)_(24631791_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001836553.1, VCV001340764.1 | 3 |