nsv7097864
- 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:19,507,705
- Description:NC_000007.13:g.(?_130781014)_(150301047_?)del AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 55384 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 55127 SVs from 143 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097864 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 131,096,255 | 150,603,959 |
| nsv7097864 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 130,781,014 | 150,301,047 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790525 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003116360.1, VCV002425346.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790525 | Remapped | Good | NC_000007.14:g.(?_ 131096255)_(150603 959_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 131,096,255 | 150,603,959 |
| nssv18790525 | Submitted genomic | NC_000007.13:g.(?_ 130781014)_(150301 047_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 130,781,014 | 150,301,047 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790525 | GRCh37: NC_000007.13:g.(?_130781014)_(150301047_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003116360.1, VCV002425346.3 |