nsv4350274
- 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:8,407,544
- Description:GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) 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: 21867 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 21855 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350274 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 83,215,071 | 91,622,614 |
| nsv4350274 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 83,883,823 | 92,165,844 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606083 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767759.1, VCV000625751.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606083 | Remapped | Good | NC_000015.10:g.(?_ 83215071)_(9162261 4_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 83,215,071 | 91,622,614 |
| nssv15606083 | Submitted genomic | NC_000015.9:g.(?_8 3883823)_(92165844 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 83,883,823 | 92,165,844 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606083 | GRCh37: NC_000015.9:g.(?_83883823)_(92165844_?)del | copy number loss | de novo | not provided | Pathogenic | ClinVar | RCV000767759.1, VCV000625751.1 |