nsv6637369
- 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:1,950,730
- Description:GRCh37/hg19 17q12(chr17:34425363-36404555)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: 5457 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 7112 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637369 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 332,891 | 2,283,620 |
| nsv6637369 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 34,425,363 | 36,404,555 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330713 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472574.1, VCV001807768.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330713 | Remapped | Good | NT_187614.1:g.(?_3 32891)_(2283620_?) dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 332,891 | 2,283,620 |
| nssv18330713 | Submitted genomic | NC_000017.10:g.(?_ 34425363)_(3640455 5_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,425,363 | 36,404,555 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330713 | GRCh37: NC_000017.10:g.(?_34425363)_(36404555_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV002472574.1, VCV001807768.1 | 3 |