nsv6637039
- 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:1,892,342
- Description:GRCh37/hg19 3p25.3-25.2(chr3:10024917-11917048)x1 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: 5438 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 5431 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637039 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 9,983,233 | 11,875,574 |
| nsv6637039 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 10,024,917 | 11,917,048 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329561 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472495.1, VCV001807689.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329561 | Remapped | Good | NC_000003.12:g.(?_ 9983233)_(11875574 _?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 9,983,233 | 11,875,574 |
| nssv18329561 | Submitted genomic | NC_000003.11:g.(?_ 10024917)_(1191704 8_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 10,024,917 | 11,917,048 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329561 | GRCh37: NC_000003.11:g.(?_10024917)_(11917048_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002472495.1, VCV001807689.1 | 1 |