nsv3916216
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:8,272
- Description:GRCh38/hg38 16q13(chr16:56496014-56504285) AND Bardet-Biedl syndrome
- Publication(s):Forsythe et al. 2003, Lindstrand et al. 2016, 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: 56 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 56 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3916216 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 56,496,014 | 56,504,285 |
| nsv3916216 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 56,529,926 | 56,538,197 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15129973 | copy number loss | Multiple | Multiple | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome | Likely pathogenic | ClinVar | RCV000497980.2, VCV000431738.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15129973 | Submitted genomic | NC_000016.10:g.564 96014_56504285del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 56,496,014 | 56,504,285 |
| nssv15129973 | Submitted genomic | NC_000016.9:g.5652 9926_56538197del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 56,529,926 | 56,538,197 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15129973 | GRCh37: NC_000016.9:g.56529926_56538197del, GRCh38: NC_000016.10:g.56496014_56504285del | copy number loss | biparental | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome | Likely pathogenic | ClinVar | RCV000497980.2, VCV000431738.2 |