nsv7093937
- 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:4,028
- Description:NC_000011.9:g.(?_66287078)_(66291105_?)del AND Bardet-Biedl syndrome
- Publication(s):Forsythe et al. 2003, Styne et al. 2017
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 77 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7093937 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 66,519,607 | 66,523,634 |
| nsv7093937 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 66,287,078 | 66,291,105 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787680 | deletion | Multiple | Multiple | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome | Pathogenic | ClinVar | RCV003122683.2, VCV002426850.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787680 | Remapped | Perfect | NC_000011.10:g.(?_ 66519607)_(6652363 4_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 66,519,607 | 66,523,634 |
| nssv18787680 | Submitted genomic | NC_000011.9:g.(?_6 6287078)_(66291105 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 66,287,078 | 66,291,105 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787680 | GRCh37: NC_000011.9:g.(?_66287078)_(66291105_?)del | deletion | germline | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome | Pathogenic | ClinVar | RCV003122683.2, VCV002426850.2 |