nsv6313740
- 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:12,843,964
- Description:GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517) 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: 39844 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 39844 SVs from 136 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313740 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 61,001,837 | 73,845,800 |
| nsv6313740 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 61,867,555 | 74,711,517 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969950 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053422.3, VCV001527090.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969950 | Remapped | Perfect | NC_000004.12:g.(?_ 61001837)_(7384580 0_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 61,001,837 | 73,845,800 |
| nssv17969950 | Submitted genomic | NC_000004.11:g.(?_ 61867555)_(7471151 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 61,867,555 | 74,711,517 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969950 | GRCh37: NC_000004.11:g.(?_61867555)_(74711517_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053422.3, VCV001527090.3 |