nsv4681554
- 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:2,239
- Description:NC_000011.10:g.(?_66529809)_(66532047_?)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: 64 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 19 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4681554 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 66,529,809 | 66,532,047 |
nsv4681554 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 66,297,280 | 66,299,518 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16212321 | deletion | Multiple | Multiple | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome | Pathogenic | ClinVar | RCV001033093.2, VCV000832618.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16212321 | Remapped | Perfect | NC_000011.10:g.(?_ 66529809)_(6653204 7_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 66,529,809 | 66,532,047 |
nssv16212321 | Submitted genomic | NC_000011.9:g.(?_6 6297280)_(66299518 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 66,297,280 | 66,299,518 |
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 |
---|---|---|---|---|---|---|---|
nssv16212321 | GRCh37: NC_000011.9:g.(?_66297280)_(66299518_?)del | deletion | germline | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome | Pathogenic | ClinVar | RCV001033093.2, VCV000832618.2 |