nsv3906962
- 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:15,449,598
- Description:GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)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: 55013 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 55175 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3906962 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 35,332,936 | 50,782,533 |
| nsv3906962 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 35,728,929 | 51,220,961 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147708 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240469.2, VCV000253617.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15147708 | Remapped | Good | NC_000022.11:g.(?_ 35332936)_(5078253 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,332,936 | 50,782,533 |
| nssv15147708 | Submitted genomic | NC_000022.10:g.(?_ 35728929)_(5122096 1_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 35,728,929 | 51,220,961 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147708 | GRCh37: NC_000022.10:g.(?_35728929)_(51220961_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV000240469.2, VCV000253617.2 | 3 |