nsv6315182
- 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:7,599,896
- Description:GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 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: 30103 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 29776 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315182 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 75,485,428 | 83,085,323 |
| nsv6315182 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 73,481,509 | 81,043,199 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976673 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002276051.5, VCV001701331.6 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976673 | Remapped | Good | NC_000017.11:g.(?_ 75485428)_(8308532 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 75,485,428 | 83,085,323 |
| nssv17976673 | Submitted genomic | NC_000017.10:g.(?_ 73481509)_(8104319 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 73,481,509 | 81,043,199 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976673 | GRCh37: NC_000017.10:g.(?_73481509)_(81043199_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV002276051.5, VCV001701331.6 | 3 |