nsv6314103
- 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:1,066,238
- Description:GRCh37/hg19 17p13.1(chr17:7020054-8086290) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3762 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3763 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314103 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 7,116,735 | 8,182,972 |
| nsv6314103 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 7,020,054 | 8,086,290 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969121 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052585.3, VCV001526566.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969121 | Remapped | Perfect | NC_000017.11:g.(?_ 7116735)_(8182972_ ?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 7,116,735 | 8,182,972 |
| nssv17969121 | Submitted genomic | NC_000017.10:g.(?_ 7020054)_(8086290_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 7,020,054 | 8,086,290 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969121 | GRCh37: NC_000017.10:g.(?_7020054)_(8086290_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002052585.3, VCV001526566.3 |