9q33.1-q33.2CNV Type: Duplication
Largest CNV size: 1154667 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 9q33.1-q33.2 duplication was identified in a proband with Tourette syndrome in Wang et al., 2018.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
wang_18_TS_discovery_cases
Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
789
Probands diagnosed with Tourette syndrome
N/A
80.57% Male
1154667
0
1
1
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
wang_18_TS_discovery_cases-caseM_RU_51.p1
N/A
N/A
Tourette syndrome
Tourette syndrome proband from phase 2 cohort; no additional clinical information available
119282861
120437527
1154667
GRCh38
Duplication
Yes
Controls
No Control Data Available
No Animal Model Data Available