nsv4456640
- 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:2,431,206
- Description:GRCh37/hg19 13q12.11(chr13:20562171-22993375)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: 8025 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 8025 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456640 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 19,988,031 | 22,419,236 |
| nsv4456640 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 20,562,171 | 22,993,375 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775359 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000847185.2, VCV000686477.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775359 | Remapped | Perfect | NC_000013.11:g.(?_ 19988031)_(2241923 6_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,988,031 | 22,419,236 |
| nssv15775359 | Submitted genomic | NC_000013.10:g.(?_ 20562171)_(2299337 5_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,562,171 | 22,993,375 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775359 | GRCh37: NC_000013.10:g.(?_20562171)_(22993375_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000847185.2, VCV000686477.2 | 1 |