nsv5980400
- 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:542
- Description:NM_019892.6(INPP5E):c.1549+17_1550-149del 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: 274 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 274 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5980400 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 136,431,266 | 136,431,807 |
| nsv5980400 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 139,325,718 | 139,326,259 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17517486 | deletion | Multiple | Multiple | JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome | Likely benign | ClinVar | RCV001499598.5, VCV001156807.6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17517486 | Submitted genomic | NC_000009.12:g.136 431266_136431807de l | GRCh38 (hg38) | NC_000009.12 | Chr9 | 136,431,266 | 136,431,807 |
| nssv17517486 | Submitted genomic | NC_000009.11:g.139 325718_139326259de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 139,325,718 | 139,326,259 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17517486 | GRCh37: NC_000009.11:g.139325718_139326259del, GRCh38: NC_000009.12:g.136431266_136431807del | deletion | germline | JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome | Likely benign | ClinVar | RCV001499598.5, VCV001156807.6 |