nsv6314134
- 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:910,363
- Description:GRCh37/hg19 17p13.2(chr17:4113551-5023913) 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: 3703 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 3703 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314134 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 4,210,256 | 5,120,618 |
| nsv6314134 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 4,113,551 | 5,023,913 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969116 | copy number loss | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052580.3, VCV001526561.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969116 | Remapped | Perfect | NC_000017.11:g.(?_ 4210256)_(5120618_ ?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 4,210,256 | 5,120,618 |
| nssv17969116 | Submitted genomic | NC_000017.10:g.(?_ 4113551)_(5023913_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 4,113,551 | 5,023,913 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969116 | GRCh37: NC_000017.10:g.(?_4113551)_(5023913_?)del | copy number loss | germline | not specified | Uncertain significance | ClinVar | RCV002052580.3, VCV001526561.3 |