nsv4728336
- 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:7,452
- Description:NC_000017.11:g.(?_50193945)_(50201396_?)del AND Osteogenesis imperfecta
- Publication(s):Steiner et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 139 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728336 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 50,193,945 | 50,201,396 |
| nsv4728336 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 48,271,306 | 48,278,757 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16254683 | deletion | Multiple | Multiple | COL1A1/2-Related Osteogenesis Imperfecta; Osteogenesis Imperfecta; Osteogenesis imperfecta; Osteogenesis imperfecta | Pathogenic | ClinVar | RCV001260268.1, VCV000870104.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254683 | Remapped | Perfect | NC_000017.11:g.(?_ 50193945)_(5020139 6_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 50,193,945 | 50,201,396 |
| nssv16254683 | Submitted genomic | NC_000017.10:g.(?_ 48271306)_(4827875 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 48,271,306 | 48,278,757 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16254683 | GRCh37: NC_000017.10:g.(?_48271306)_(48278757_?)del | deletion | paternal | COL1A1/2-Related Osteogenesis Imperfecta; Osteogenesis Imperfecta; Osteogenesis imperfecta; Osteogenesis imperfecta | Pathogenic | ClinVar | RCV001260268.1, VCV000870104.1 |