nsv3884944
- 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:16,809
- Description:NC_000006.12:g.(?_135394756)_(135411564_?)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: 120 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3884944 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 135,394,756 | 135,411,564 |
| nsv3884944 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 135,715,894 | 135,732,702 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15154202 | deletion | Multiple | Multiple | JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome | Likely pathogenic | ClinVar | RCV000707893.6, VCV000583596.8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15154202 | Submitted genomic | NC_000006.12:g.(?_ 135394756)_(135411 564_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 135,394,756 | 135,411,564 |
| nssv15154202 | Submitted genomic | NC_000006.11:g.(?_ 135715894)_(135732 702_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 135,715,894 | 135,732,702 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15154202 | GRCh37: NC_000006.11:g.(?_135715894)_(135732702_?)del, GRCh38: NC_000006.12:g.(?_135394756)_(135411564_?)del | deletion | germline | JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome | Likely pathogenic | ClinVar | RCV000707893.6, VCV000583596.8 |