nsv7097052
- 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:1,352
- Description:NC_000006.11:g.(?_1610666)_(1612017_?)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: 118 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 28 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7097052 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 1,610,431 | 1,611,782 |
nsv7097052 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 1,610,666 | 1,612,017 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18791956 | deletion | Multiple | Multiple | AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3 | Pathogenic | ClinVar | RCV003107400.2, VCV002424167.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18791956 | Remapped | Perfect | NC_000006.12:g.(?_ 1610431)_(1611782_ ?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 1,610,431 | 1,611,782 |
nssv18791956 | Submitted genomic | NC_000006.11:g.(?_ 1610666)_(1612017_ ?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 1,610,666 | 1,612,017 |
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 |
---|---|---|---|---|---|---|---|
nssv18791956 | GRCh37: NC_000006.11:g.(?_1610666)_(1612017_?)del | deletion | germline | AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3 | Pathogenic | ClinVar | RCV003107400.2, VCV002424167.2 |