nsv7099032
- 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:6,306
- Description:GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1 AND Bardet-Biedl syndrome 1
- 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: 110 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7099032 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 72,708,211 | 72,714,516 |
| nsv7099032 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 73,000,552 | 73,006,857 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18792812 | copy number loss | Multiple | Multiple | BARDET-BIEDL SYNDROME 1; BBS1; Bardet-Biedl syndrome 1 | Pathogenic | ClinVar | RCV003229558.1, VCV002502903.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792812 | Remapped | Perfect | NC_000015.10:g.727 08211_72714516del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 72,708,211 | 72,714,516 |
| nssv18792812 | Submitted genomic | NC_000015.9:g.7300 0552_73006857del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 73,000,552 | 73,006,857 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18792812 | GRCh37: NC_000015.9:g.73000552_73006857del | copy number loss | maternal | BARDET-BIEDL SYNDROME 1; BBS1; Bardet-Biedl syndrome 1 | Pathogenic | ClinVar | RCV003229558.1, VCV002502903.1 | 1 |