nsv6313809
- 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:61,297
- Description:GRCh37/hg19 3p13(chr3:71251088-71312384) 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: 285 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 285 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313809 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 71,201,937 | 71,263,233 |
| nsv6313809 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 71,251,088 | 71,312,384 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969885 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053357.3, VCV001527025.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969885 | Remapped | Perfect | NC_000003.12:g.(?_ 71201937)_(7126323 3_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 71,201,937 | 71,263,233 |
| nssv17969885 | Submitted genomic | NC_000003.11:g.(?_ 71251088)_(7131238 4_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 71,251,088 | 71,312,384 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969885 | GRCh37: NC_000003.11:g.(?_71251088)_(71312384_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053357.3, VCV001527025.3 |