nsv997192
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:149,882
- Description:EXT2
- Publication(s):Jennes et al. 2011, Riggs et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 257 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 257 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv997192 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 44,095,549 | 44,245,430 |
| nsv997192 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 44,117,099 | 44,266,980 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv3442669 | copy number loss | Curated | Curated | EXOSTOSES, MULTIPLE, TYPE II | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3442669 | Remapped | Perfect | NC_000011.10:g.(?_ 44095549)_(4424543 0_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 44,095,549 | 44,245,430 |
| nssv3442669 | Submitted genomic | NC_000011.9:g.(?_4 4117099)_(44266980 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 44,117,099 | 44,266,980 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv3442669 | GRCh37: NC_000011.9:g.(?_44117099)_(44266980_?)del | copy number loss | EXOSTOSES, MULTIPLE, TYPE II | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |