nsv6313510
- 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:15,397,876
- Description:GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156) 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: 39690 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 39688 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313510 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 74,812,130 | 90,210,005 |
| nsv6313510 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 75,737,340 | 91,131,156 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969957 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053429.3, VCV001527097.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969957 | Remapped | Good | NC_000004.12:g.(?_ 74812130)_(9021000 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 74,812,130 | 90,210,005 |
| nssv17969957 | Submitted genomic | NC_000004.11:g.(?_ 75737340)_(9113115 6_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 75,737,340 | 91,131,156 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969957 | GRCh37: NC_000004.11:g.(?_75737340)_(91131156_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053429.3, VCV001527097.3 |