nsv3912767
- 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:7,720
- Description:GRCh38/hg38 15q24.1(chr15:72714229-72721948) 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: 122 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3912767 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 72,714,229 | 72,721,948 |
| nsv3912767 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 73,006,570 | 73,014,289 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15129979 | copy number loss | Multiple | Multiple | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome | Likely pathogenic | ClinVar | RCV000498582.2, VCV000431742.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15129979 | Submitted genomic | NC_000015.10:g.727 14229_72721948del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 72,714,229 | 72,721,948 |
| nssv15129979 | Submitted genomic | NC_000015.9:g.7300 6570_73014289del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 73,006,570 | 73,014,289 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15129979 | GRCh37: NC_000015.9:g.73006570_73014289del, GRCh38: NC_000015.10:g.72714229_72721948del | copy number loss | biparental | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome | Likely pathogenic | ClinVar | RCV000498582.2, VCV000431742.2 |