nsv7098763
- 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:5,918
- Description:NC_000002.12:g.169477282_169483199del 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: 162 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7098763 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 169,477,282 | 169,483,199 |
| nsv7098763 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 170,333,792 | 170,339,709 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792556 | deletion | Multiple | Multiple | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome | Pathogenic | ClinVar | RCV003150847.2, VCV002443002.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18792556 | Submitted genomic | NC_000002.12:g.169 477282_169483199de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 169,477,282 | 169,483,199 |
| nssv18792556 | Submitted genomic | NC_000002.11:g.170 333792_170339709de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 170,333,792 | 170,339,709 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792556 | GRCh37: NC_000002.11:g.170333792_170339709del, GRCh38: NC_000002.12:g.169477282_169483199del | deletion | inherited | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome | Pathogenic | ClinVar | RCV003150847.2, VCV002443002.2 |