nsv6313750
- 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:12,761,196
- Description:GRCh37/hg19 4q26-28.2(chr4:116888785-129649979) 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: 31607 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 31607 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313750 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 115,967,629 | 128,728,824 |
| nsv6313750 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 116,888,785 | 129,649,979 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969979 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053451.3, VCV001527119.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969979 | Remapped | Perfect | NC_000004.12:g.(?_ 115967629)_(128728 824_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 115,967,629 | 128,728,824 |
| nssv17969979 | Submitted genomic | NC_000004.11:g.(?_ 116888785)_(129649 979_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 116,888,785 | 129,649,979 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969979 | GRCh37: NC_000004.11:g.(?_116888785)_(129649979_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053451.3, VCV001527119.3 |