nsv6290244
- 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:21,813,818
- Description:GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)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: 54131 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 54149 SVs from 131 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290244 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 143,720,517 | 165,534,334 |
| nsv6290244 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 143,439,359 | 165,252,122 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17955929 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001795847.4, VCV001328449.4 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955929 | Remapped | Good | NC_000003.12:g.143 720517_165534334de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 143,720,517 | 165,534,334 |
| nssv17955929 | Submitted genomic | NC_000003.11:g.143 439359_165252122de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 143,439,359 | 165,252,122 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17955929 | GRCh37: NC_000003.11:g.143439359_165252122del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV001795847.4, VCV001328449.4 | 1 |