nsv3894026
- 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:34,431,901
- Description:GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 118022 SVs from 149 studies. See in: genome view
Overlapping variant regions from other studies: 120915 SVs from 149 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3894026 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 16,367,190 | 50,799,090 |
| nsv3894026 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 16,054,691 | 51,237,518 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146973 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240091.1, VCV000253509.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15146973 | Remapped | Good | NC_000022.11:g.(?_ 16367190)_(5079909 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,367,190 | 50,799,090 |
| nssv15146973 | Submitted genomic | NC_000022.10:g.(?_ 16054691)_(5123751 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,054,691 | 51,237,518 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146973 | GRCh37: NC_000022.10:g.(?_16054691)_(51237518_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV000240091.1, VCV000253509.1 | 3 |