Yq11.23CNV Type: Deletion-Duplication
Largest CNV size: 196824 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Deletions and duplications within this region were identified in four ASD cases by Gazzellone and colleagues (2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
196824
3
1
4
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
gazzellone_14_ASD_discovery_cases-case540-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
25507235
25663212
155978
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case609-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
24358349
24446254
87906
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case623-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
25264556
25461380
196825
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case664-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
24367567
24441248
73682
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gazzellone_14_ASD_discovery_cases-case540-3
Unknown
Unknown
Unknown
CDY19P,USP9YP36,CDY20P,ELOCP34,USP9YP33,CDY1
gazzellone_14_ASD_discovery_cases-case609-3
Unknown
Unknown
Unknown
RBMY2XP
gazzellone_14_ASD_discovery_cases-case623-3
Unknown
Unknown
Unknown
RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,LINC00266-4P
gazzellone_14_ASD_discovery_cases-case664-3
Unknown
Unknown
Unknown
RBMY2XP
Controls
No Control Data Available
No Animal Model Data Available