nsv5672558
- 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:4,963
- Description:NC_000011.9:g.(?_66288721)_(66293683_?)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: 81 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 27 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5672558 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 66,521,250 | 66,526,212 |
nsv5672558 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 66,288,721 | 66,293,683 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17172606 | deletion | Multiple | Multiple | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome | Pathogenic | ClinVar | RCV001381832.5, VCV001069865.5 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17172606 | Remapped | Perfect | NC_000011.10:g.(?_ 66521250)_(6652621 2_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 66,521,250 | 66,526,212 |
nssv17172606 | Submitted genomic | NC_000011.9:g.(?_6 6288721)_(66293683 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 66,288,721 | 66,293,683 |
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 |
---|---|---|---|---|---|---|---|
nssv17172606 | GRCh37: NC_000011.9:g.(?_66288721)_(66293683_?)del | deletion | germline | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome | Pathogenic | ClinVar | RCV001381832.5, VCV001069865.5 |