nsv3876280
- 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:37,397,761
- Description:GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)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: 100427 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 100337 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3876280 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 20,213 | 37,417,973 |
| nsv3876280 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 61,891 | 37,459,464 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15149909 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511463.2, VCV000443464.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15149909 | Remapped | Good | NC_000003.12:g.(?_ 20213)_(37417973_? )dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 20,213 | 37,417,973 |
| nssv15149909 | Submitted genomic | NC_000003.11:g.(?_ 61891)_(37459464_? )dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 61,891 | 37,459,464 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15149909 | GRCh37: NC_000003.11:g.(?_61891)_(37459464_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000511463.2, VCV000443464.2 | 3 |