nsv4729106
- 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:1,655,933
- Description:GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)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: 4301 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 4302 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729106 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 74,105,821 | 75,761,753 |
| nsv4729106 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 74,398,162 | 76,054,094 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255517 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259708.1, VCV000980532.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255517 | Remapped | Perfect | NC_000015.10:g.(?_ 74105821)_(7576175 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 74,105,821 | 75,761,753 |
| nssv16255517 | Submitted genomic | NC_000015.9:g.(?_7 4398162)_(76054094 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 74,398,162 | 76,054,094 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255517 | GRCh37: NC_000015.9:g.(?_74398162)_(76054094_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001259708.1, VCV000980532.1 | 1 |