nsv6313757
- 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:2,586,787
- Description:GRCh37/hg19 3p22.3(chr3:32699328-35286114) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5996 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 5996 SVs from 90 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313757 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 32,657,836 | 35,244,622 |
| nsv6313757 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 32,699,328 | 35,286,114 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969866 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053338.3, VCV001527006.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969866 | Remapped | Perfect | NC_000003.12:g.(?_ 32657836)_(3524462 2_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 32,657,836 | 35,244,622 |
| nssv17969866 | Submitted genomic | NC_000003.11:g.(?_ 32699328)_(3528611 4_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 32,699,328 | 35,286,114 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969866 | GRCh37: NC_000003.11:g.(?_32699328)_(35286114_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002053338.3, VCV001527006.3 |