nsv7098876
- 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:616,122
- Description:GRCh37/hg19 15q11.2(chr15:22070540-23262343)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: 3115 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 10103 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098876 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,610,753 | 23,226,874 |
| nsv7098876 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,070,540 | 23,262,343 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18792791 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003222837.2, VCV002498628.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792791 | Remapped | Pass | NC_000015.10:g.(?_ 22610753)_(2322687 4_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,610,753 | 23,226,874 |
| nssv18792791 | Submitted genomic | NC_000015.9:g.(?_2 2070540)_(23262343 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,070,540 | 23,262,343 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18792791 | GRCh37: NC_000015.9:g.(?_22070540)_(23262343_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV003222837.2, VCV002498628.3 | 1 |