nsv4349273
- 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:454,120
- Description:GRCh37/hg19 15q24.2(chr15:75648132-76102251) 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: 1274 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1274 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349273 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 75,355,791 | 75,809,910 |
| nsv4349273 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 75,648,132 | 76,102,251 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605928 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767757.1, VCV000625749.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605928 | Remapped | Perfect | NC_000015.10:g.(?_ 75355791)_(7580991 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 75,355,791 | 75,809,910 |
| nssv15605928 | Submitted genomic | NC_000015.9:g.(?_7 5648132)_(76102251 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 75,648,132 | 76,102,251 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605928 | GRCh37: NC_000015.9:g.(?_75648132)_(76102251_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV000767757.1, VCV000625749.1 |