nsv997060
- 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:3,452
- Description:FOXC1
- Publication(s):Mirzayans et al. 2000, Nishimura et al. 2001, Riggs et al. 2011, Weisschuh et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 173 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 173 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv997060 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 1,610,446 | 1,613,897 |
| nsv997060 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 1,610,681 | 1,614,132 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv3442659 | copy number loss | Curated | Curated | AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3442659 | Remapped | Perfect | NC_000006.12:g.(?_ 1610446)_(1613897_ ?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 1,610,446 | 1,613,897 |
| nssv3442659 | Submitted genomic | NC_000006.11:g.(?_ 1610681)_(1614132_ ?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 1,610,681 | 1,614,132 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv3442659 | GRCh37: NC_000006.11:g.(?_1610681)_(1614132_?)del | copy number loss | AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3 | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |