nsv997231
- 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:24,701
- Description:PITX2
- Publication(s):Lines 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: 136 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv997231 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 110,617,423 | 110,642,123 |
| nsv997231 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 111,538,579 | 111,563,279 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv3442566 | copy number loss | Curated | Curated | AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3442566 | Remapped | Perfect | NC_000004.12:g.(?_ 110617423)_(110642 123_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 110,617,423 | 110,642,123 |
| nssv3442566 | Submitted genomic | NC_000004.11:g.(?_ 111538579)_(111563 279_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 111,538,579 | 111,563,279 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv3442566 | GRCh37: NC_000004.11:g.(?_111538579)_(111563279_?)del | copy number loss | AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |