nsv997235
- 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:195,363
- Description:GLI2
- Publication(s):Bertolacini et al. 2012, França et al. 2010, Riggs et al. 2011, Roessler et al. 2003
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 465 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 466 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv997235 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 120,797,291 | 120,992,653 |
| nsv997235 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 121,554,867 | 121,750,229 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv3442574 | copy number loss | Curated | Curated | HOLOPROSENCEPHALY 9; HPE9 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3442574 | Remapped | Perfect | NC_000002.12:g.(?_ 120797291)_(120992 653_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 120,797,291 | 120,992,653 |
| nssv3442574 | Submitted genomic | NC_000002.11:g.(?_ 121554867)_(121750 229_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 121,554,867 | 121,750,229 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv3442574 | GRCh37: NC_000002.11:g.(?_121554867)_(121750229_?)del | copy number loss | HOLOPROSENCEPHALY 9; HPE9 | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |