nsv7137073
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,133,415
- Description:GRCh37/hg19 6p25.3(chr6:491126-1624775) AND Axenfeld-Rieger syndrome type 3
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4735 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 4726 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137073 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 491,126 | 1,624,540 |
| nsv7137073 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 491,126 | 1,624,775 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830818 | copy number loss | Multiple | Multiple | AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3 | Pathogenic | ClinVar | RCV003236720.1, VCV002506536.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830818 | Remapped | Good | NC_000006.12:g.(?_ 491126)_(1624540_? )del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 491,126 | 1,624,540 |
| nssv18830818 | Submitted genomic | NC_000006.11:g.(?_ 491126)_(1624775_? )del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 491,126 | 1,624,775 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830818 | GRCh37: NC_000006.11:g.(?_491126)_(1624775_?)del | copy number loss | germline | AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3 | Pathogenic | ClinVar | RCV003236720.1, VCV002506536.1 |