nsv7094589
- 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:1,752,084
- Description:NC_000016.9:g.(?_57016057)_(58768132_?)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: 5320 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 5319 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094589 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 56,982,145 | 58,734,228 |
| nsv7094589 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 57,016,057 | 58,768,132 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787676 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003122679.2, VCV002426846.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787676 | Remapped | Perfect | NC_000016.10:g.(?_ 56982145)_(5873422 8_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 56,982,145 | 58,734,228 |
| nssv18787676 | Submitted genomic | NC_000016.9:g.(?_5 7016057)_(58768132 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 57,016,057 | 58,768,132 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787676 | GRCh37: NC_000016.9:g.(?_57016057)_(58768132_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003122679.2, VCV002426846.3 |