nsv3876142
- 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:82,550
- Description:GRCh37/hg19 2q23.1(chr2:148897424-148979973) 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: 292 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 292 SVs from 41 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3876142 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 148,139,855 | 148,222,404 |
| nsv3876142 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 148,897,424 | 148,979,973 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969776 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053248.3, VCV001526916.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969776 | Remapped | Perfect | NC_000002.12:g.(?_ 148139855)_(148222 404_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 148,139,855 | 148,222,404 |
| nssv17969776 | Submitted genomic | NC_000002.11:g.(?_ 148897424)_(148979 973_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 148,897,424 | 148,979,973 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969776 | GRCh37: NC_000002.11:g.(?_148897424)_(148979973_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053248.3, VCV001526916.3 |