nsv4729092
- 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:15,562,368
- Description:GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 46035 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 46041 SVs from 132 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv4729092 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 86,418,822 | 101,981,189 | - |
| nsv4729092 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 86,962,053 | - | 102,531,392 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254726 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001263026.1, VCV000983158.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv16254726 | Remapped | Good | NC_000015.10:g.(86 418822_?)_(1019811 89_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 86,418,822 | 101,981,189 | - |
| nssv16254726 | Submitted genomic | NC_000015.9:g.(869 62053_?)_(?_102531 392)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 86,962,053 | - | 102,531,392 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254726 | GRCh37: NC_000015.9:g.(86962053_?)_(?_102531392)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV001263026.1, VCV000983158.1 | 1 |