Yq11.222CNV Type: Duplication
Largest CNV size: 168766 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Duplications within this region were identified in two 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.
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
168766
0
2
2
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
265000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
227662
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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-case505-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
19069153
19171224
102072
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case690-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
18051109
18219875
168767
GRCh38
Duplication
No
monteiro_19_ASD_discovery_cases_case27
N/A
M
ASD
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: normal (no developmental delay). Dysmorphic features: present. Growth parameters: macrocephaly.
Normal (no intellectual disability)
18643890
18909218
265329
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
nord_11_ASD_discovery_controls-04C26653
Control
19185545
19413206
227662
Unknown
Duplication
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gazzellone_14_ASD_discovery_cases-case505-3
Unknown
Unknown
Unknown
TTTY14
gazzellone_14_ASD_discovery_cases-case690-3
Unknown
Unknown
Unknown
ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,PRYP2,OFD1P2Y
monteiro_19_ASD_discovery_cases_case27
De novo
RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,OFD1P6Y,OFD1P7Y,HSFY2,TTTY14
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nord_11_ASD_discovery_controls-04C26653
TTTY9A,TTTY9B,HSFY1,HSFY2
No Animal Model Data Available