nsv3878718
- 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:36,648,478
- Description:GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) 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: 98698 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 98608 SVs from 136 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3878718 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 20,213 | 36,668,690 |
| nsv3878718 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 61,891 | 36,710,181 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969828 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053300.3, VCV001526968.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969828 | Remapped | Good | NC_000003.12:g.(?_ 20213)_(36668690_? )dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 20,213 | 36,668,690 |
| nssv17969828 | Submitted genomic | NC_000003.11:g.(?_ 61891)_(36710181_? )dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 61,891 | 36,710,181 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969828 | GRCh37: NC_000003.11:g.(?_61891)_(36710181_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053300.3, VCV001526968.3 |