nsv997137
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:
- Submitted on:GRCh37 (hg19)
- Variant Calls:0
- Validation:Not tested
- Clinical Assertions: No
- Region Size:260,533
- Description:TRPS1
- Publication(s):Hilton et al. 2002, Momeni et al. 2000, Riedl et al. 2004, 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: 870 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 870 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv997137 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 115,408,496 | 115,669,028 |
| nsv997137 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 116,420,724 | 116,681,255 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv3442614 | copy number loss | Curated | Curated | TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3442614 | Remapped | Perfect | NC_000008.11:g.(?_ 115408496)_(115669 028_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 115,408,496 | 115,669,028 |
| nssv3442614 | Submitted genomic | NC_000008.10:g.(?_ 116420724)_(116681 255_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 116,420,724 | 116,681,255 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv3442614 | GRCh37: NC_000008.10:g.(?_116420724)_(116681255_?)del | copy number loss | TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |