nsv3883208
- 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:85,074
- Description:GRCh37/hg19 2q23.1(chr2:148894900-148979973) 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: 295 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 295 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3883208 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 148,137,331 | 148,222,404 |
| nsv3883208 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 148,894,900 | 148,979,973 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969774 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053246.3, VCV001526914.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969774 | Remapped | Perfect | NC_000002.12:g.(?_ 148137331)_(148222 404_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 148,137,331 | 148,222,404 |
| nssv17969774 | Submitted genomic | NC_000002.11:g.(?_ 148894900)_(148979 973_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 148,894,900 | 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 |
|---|---|---|---|---|---|---|---|
| nssv17969774 | GRCh37: NC_000002.11:g.(?_148894900)_(148979973_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053246.3, VCV001526914.3 |