nsv4456778
- 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:2,447,140
- Description:GRCh37/hg19 15q26.1(chr15:91229877-93677014)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: 6696 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 6696 SVs from 107 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4456778 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 90,686,646 | 93,133,785 |
nsv4456778 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 91,229,877 | 93,677,014 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15777245 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000847986.2, VCV000687287.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15777245 | Remapped | Perfect | NC_000015.10:g.(?_ 90686646)_(9313378 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 90,686,646 | 93,133,785 |
nssv15777245 | Submitted genomic | NC_000015.9:g.(?_9 1229877)_(93677014 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 91,229,877 | 93,677,014 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15777245 | GRCh37: NC_000015.9:g.(?_91229877)_(93677014_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000847986.2, VCV000687287.2 | 1 |