nsv4676292
- 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:20,500,636
- Description:GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)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: 69497 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 69681 SVs from 137 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676292 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 30,258,775 | 50,759,410 |
| nsv4676292 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 30,654,764 | 51,197,838 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208602 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007181.1, VCV000816216.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208602 | Remapped | Good | NC_000022.11:g.(?_ 30258775)_(5075941 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 30,258,775 | 50,759,410 |
| nssv16208602 | Submitted genomic | NC_000022.10:g.(?_ 30654764)_(5119783 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 30,654,764 | 51,197,838 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208602 | GRCh37: NC_000022.10:g.(?_30654764)_(51197838_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001007181.1, VCV000816216.1 | 3 |