nsv3888432
- 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:7,366,086
- Description:GRCh37/hg19 2q31.1-31.3(chr2:174238257-181604341)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: 17484 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 17484 SVs from 119 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3888432 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 173,373,529 | 180,739,614 |
| nsv3888432 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 174,238,257 | 181,604,341 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15162606 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000740710.2, VCV000604074.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15162606 | Remapped | Perfect | NC_000002.12:g.(?_ 173373529)_(180739 614_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 173,373,529 | 180,739,614 |
| nssv15162606 | Submitted genomic | NC_000002.11:g.(?_ 174238257)_(181604 341_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 174,238,257 | 181,604,341 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15162606 | GRCh37: NC_000002.11:g.(?_174238257)_(181604341_?)del | copy number loss | de novo | not provided | Pathogenic | ClinVar | RCV000740710.2, VCV000604074.2 | 1 |