nsv7137132
- 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:576,416
- Description:GRCh37/hg19 17p13.3(chr17:65445-695309)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: 6116 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 3873 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137132 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 215,654 | 792,069 |
| nsv7137132 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 65,445 | 695,309 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18830704 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003312407.1, VCV002571006.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830704 | Remapped | Pass | NC_000017.11:g.(?_ 215654)_(792069_?) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 215,654 | 792,069 |
| nssv18830704 | Submitted genomic | NC_000017.10:g.(?_ 65445)_(695309_?)d el | GRCh37 (hg19) | NC_000017.10 | Chr17 | 65,445 | 695,309 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18830704 | GRCh37: NC_000017.10:g.(?_65445)_(695309_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV003312407.1, VCV002571006.2 | 1 |