nsv6313880
- 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:7,150,447
- Description:GRCh37/hg19 7q11.23-21.11(chr7:77310644-84461089) 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: 18854 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 18855 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313880 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 77,681,327 | 84,831,773 |
| nsv6313880 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 77,310,644 | 84,461,089 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970227 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053699.3, VCV001527367.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970227 | Remapped | Perfect | NC_000007.14:g.(?_ 77681327)_(8483177 3_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 77,681,327 | 84,831,773 |
| nssv17970227 | Submitted genomic | NC_000007.13:g.(?_ 77310644)_(8446108 9_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 77,310,644 | 84,461,089 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970227 | GRCh37: NC_000007.13:g.(?_77310644)_(84461089_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053699.3, VCV001527367.3 |