2q23.3-q24.3CNV Type: Deletion
Largest CNV size: 12451250 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Deletion
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
gregory_09_ASD_discovery_cases
Probands from multiplex autism families
119
Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
78.15% Male
12451250
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gregory_09_ASD_discovery_controls
Samples from 27 sex-mismatched hybridizations
54
Controls
50% Male
12451250
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gregory_09_ASD_discovery_cases
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
aCGH
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gregory_09_ASD_discovery_controls
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gregory_09_ASD_discovery_cases-200504211
aCGH dye swap
Unknown
NA
NA
RPL30P2,UBQLN4P2,ATP5PBP4,RPRM,DNAJA1P2,PHBP4,RNA5SP107,CBX3P6,RNU6-1001P,MTCO1P45,MTND2P20,ATP5F1AP2,MTND4P28,MTND5P30,MTND6P9,MTCYBP9,RNU6-546P,RPLP0P7,CDK7P1,RN7SKP281,FAM133DP,RNU6-436P,RNU6-932P,PTP4A1P1,UPP2-IT1,HNRNPDLP2,RN7SL393P,OR7E89P,OR7E28P,RNU2-21P,BTF3L4P2,RNU6-580P,GSTM3P2,MIR6888,MIR4785,RN7SL423P,LINC01806,RNA5SP108,TBR1,AHCTF1P1,KRT18P46,RPEP5,TIMM8AP1,EIF3EP2,GCG,RNA5SP109,RPL7P61,RNU6-627P,PRPS1P1,CYP2C56P,ARL6IP6,RPL23AP29,NR4A2,LINC01958,ERMN,OR7E90P,MARCH7,LY75,LINC02478,FAP,GCA,STAM2,FMNL2,PRPF40A,LINC01850,KCNJ3,GPD2,CYTIP,ACVR1C,ACVR1,UPP2,CCDC148-AS1,PKP4,PKP4-AS1,DAPL1,TANC1,WDSUB1,CD302,LY75-CD302,PLA2R1,ITGB6,TANK,PSMD14,DPP4,IFIH1,FIGN,CACNB4,GALNT13,LINC01876,GALNT5,CCDC148,RBMS1,SLC4A10,KCNH7,BAZ2B
Controls
No Control Data Available
No Animal Model Data Available