nsv4675149
- 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:15,242,896
- Description:GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)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: 45187 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 45192 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675149 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 86,646,014 | 101,888,909 |
| nsv4675149 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 87,189,245 | 102,429,112 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208431 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006718.1, VCV000815743.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208431 | Remapped | Good | NC_000015.10:g.(?_ 86646014)_(1018889 09_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 86,646,014 | 101,888,909 |
| nssv16208431 | Submitted genomic | NC_000015.9:g.(?_8 7189245)_(10242911 2_?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 87,189,245 | 102,429,112 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208431 | GRCh37: NC_000015.9:g.(?_87189245)_(102429112_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006718.1, VCV000815743.1 | 1 |