nsv3877237
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,663
- Description:NC_000006.12:g.(?_1610445)_(1612107_?)del 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: 120 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3877237 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 1,610,445 | 1,612,107 |
| nsv3877237 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 1,610,680 | 1,612,342 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15147773 | deletion | Multiple | Multiple | AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3 | Pathogenic | ClinVar | RCV000416555.2, VCV000375435.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147773 | Submitted genomic | NC_000006.12:g.(?_ 1610445)_(1612107_ ?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 1,610,445 | 1,612,107 |
| nssv15147773 | Submitted genomic | NC_000006.11:g.(?_ 1610680)_(1612342_ ?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 1,610,680 | 1,612,342 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15147773 | GRCh37: NC_000006.11:g.(?_1610680)_(1612342_?)del, GRCh38: NC_000006.12:g.(?_1610445)_(1612107_?)del | deletion | unknown | AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3 | Pathogenic | ClinVar | RCV000416555.2, VCV000375435.2 |