nsv6313722
- 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:8,717,801
- Description:GRCh37/hg19 7q31.33-33(chr7:123967475-132729981) 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: 22660 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 22628 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313722 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 124,327,421 | 133,045,221 |
| nsv6313722 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 123,967,475 | 132,729,981 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970251 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053723.3, VCV001527391.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970251 | Remapped | Good | NC_000007.14:g.(?_ 124327421)_(133045 221_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 124,327,421 | 133,045,221 |
| nssv17970251 | Submitted genomic | NC_000007.13:g.(?_ 123967475)_(132729 981_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 123,967,475 | 132,729,981 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970251 | GRCh37: NC_000007.13:g.(?_123967475)_(132729981_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053723.3, VCV001527391.3 |