nsv5673586
- 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:25,133
- Description:NC_000005.9:g.(?_60170432)_(60195564_?)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: 170 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 170 SVs from 41 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673586 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 60,874,605 | 60,899,737 |
| nsv5673586 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 60,170,432 | 60,195,564 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17171658 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001387879.5, VCV001074549.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17171658 | Remapped | Perfect | NC_000005.10:g.(?_ 60874605)_(6089973 7_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 60,874,605 | 60,899,737 |
| nssv17171658 | Submitted genomic | NC_000005.9:g.(?_6 0170432)_(60195564 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 60,170,432 | 60,195,564 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17171658 | GRCh37: NC_000005.9:g.(?_60170432)_(60195564_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001387879.5, VCV001074549.5 |