nsv6309228
- 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:4,229
- Description:NC_000011.9:g.(?_66283001)_(66287229_?)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: 86 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 86 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6309228 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 66,515,530 | 66,519,758 |
nsv6309228 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 66,283,001 | 66,287,229 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17974991 | deletion | Multiple | Multiple | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome | Pathogenic | ClinVar | RCV001929522.2, VCV001426641.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17974991 | Remapped | Perfect | NC_000011.10:g.(?_ 66515530)_(6651975 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 66,515,530 | 66,519,758 |
nssv17974991 | Submitted genomic | NC_000011.9:g.(?_6 6283001)_(66287229 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 66,283,001 | 66,287,229 |
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 |
---|---|---|---|---|---|---|---|
nssv17974991 | GRCh37: NC_000011.9:g.(?_66283001)_(66287229_?)del | deletion | germline | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome | Pathogenic | ClinVar | RCV001929522.2, VCV001426641.2 |