nsv3870726
- 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:7,704
- Description:NC_000006.12:g.(?_135457583)_(135465286_?)del AND Familial aplasia of the vermis
- Publication(s):Parisi et al. 2003, Valente et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 118 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3870726 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 135,457,583 | 135,465,286 |
| nsv3870726 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 135,778,721 | 135,786,424 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15153018 | deletion | Multiple | Multiple | JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome | Pathogenic | ClinVar | RCV000554746.7, VCV000461739.8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15153018 | Submitted genomic | NC_000006.12:g.(?_ 135457583)_(135465 286_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 135,457,583 | 135,465,286 |
| nssv15153018 | Submitted genomic | NC_000006.11:g.(?_ 135778721)_(135786 424_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 135,778,721 | 135,786,424 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15153018 | GRCh37: NC_000006.11:g.(?_135778721)_(135786424_?)del, GRCh38: NC_000006.12:g.(?_135457583)_(135465286_?)del | deletion | germline | JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome | Pathogenic | ClinVar | RCV000554746.7, VCV000461739.8 |