nsv7148097
- 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:4,961,154
- Description:GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)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: 17798 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 17883 SVs from 133 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148097 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,360,280 | 28,321,433 |
| nsv7148097 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 23,605,427 | 28,566,579 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841880 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003326926.1, VCV002578750.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841880 | Remapped | Perfect | NC_000015.10:g.(?_ 23360280)_(2832143 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,360,280 | 28,321,433 |
| nssv18841880 | Submitted genomic | NC_000015.9:g.(?_2 3605427)_(28566579 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 23,605,427 | 28,566,579 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841880 | GRCh37: NC_000015.9:g.(?_23605427)_(28566579_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV003326926.1, VCV002578750.1 | 1 |