15q11-q13.33CNV Type: Duplication
Largest CNV size: 12229800 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
Strong association of de novo copy number mutations with autism.
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
sebat_07_ASD_discovery_cases
118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
195
Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
12229800
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
sebat_07_ASD_discovery_controls
Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre dEtude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University)Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University
196
Controls
12229800
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
sebat_07_ASD_discovery_cases
ROMA
HMM
S-PLUS
390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
sebat_07_ASD_discovery_controls
ROMA
HMM
S-PLUS
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sebat_07_ASD_discovery_cases-60-3061-4
390K ROMA or Agilent 244K aCGH, G-banded karyotyping
De novo
Simplex
NA
LOC646096,HERC2P3,GOLGA6L6,GOLGA8C,NBEAP1,LOC646214,CXADRP2,LOC348120,POTEB,NF1P2,LOC727924,OR4M2,OR4N4,OR4N3P,REREP3,MIR4509-3,MIR4509-2,MIR4509-1,GOLGA8DP,GOLGA6L1,TUBGCP5,CYFIP1,NIPA2,NIPA1,LOC283683,WHAMMP3,GOLGA8IP,HERC2P2,HERC2P7,GOLGA8E,LOC653061,MIR4508,MKRN3,MAGEL2,NDN,PWRN2,PWRN1,C15orf2,SNRPN,SNURF,SNORD107,PAR-SN,PAR5,SNORD64,SNORD108,SNORD109B,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-9,SNORD116-3,SNORD116-4,SNORD116-7,SNORD116-5,SNORD116-6,SNORD116-8,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-19,SNORD116-17,SNORD116-18,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,IPW,PAR1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-9,SNORD115-10,SNORD115-12,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-43,SNORD115-36,SNORD115-29,SNORD115-11,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-19,SNORD115-18,SNORD115-17,SNORD115-21,SNORD115-20,SNORD115-22,PAR4,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,UBE3A,ATP10A,MIR4715,LOC100128714,LOC503519,GABRB3,GABRA5,GABRG3,OCA2,HERC2,GOLGA8G,GOLGA8F,HERC2P9,WHAMMP2,LOC100289656,LOC646278,APBA2,FAM189A1,NDNL2,TJP1,FAM7A3,LOC653075,DKFZP434L187,CHRFAM7A,FAM7A2,FAM7A1,ARHGAP11B,LOC100288637,FAN1,MTMR10,TRPM1,MIR211,LOC283710,KLF13,OTUD7A,CHRNA7,LOC100288615,ARHGAP11A,SCG5
Controls
No Control Data Available
No Animal Model Data Available