10q11.23-q21.2CNV Type: Duplication
Largest CNV size: 10916362 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
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
De novo rates and selection of large copy number variation.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
9818427
0
1
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
10943000
0
1
1
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
10916362
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
10916362
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
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
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
itsara_10_ASD_discovery_cases-HI0101
NA
NA
Autism
NA
NA
50242444
60060873
9818430
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU032903
N/A
N/A
ASD
45931517
60060873
14129357
GRCh38
Duplication
No
sebat_07_ASD_discovery_cases-AU032903
NA
M
Autism
NA
NA
50562149
61478511
10916362
Unknown
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
itsara_10_ASD_discovery_cases-HI0101
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
RNU7-107P,SHQ1P1,NUTM2HP,PGGT1BP1,CCDC58P2,MIR605,RSU1P3,CSTF2T,DKK1,RPL31P44,MBL2,SNRPEP8,RNA5SP318,RNU6-687P,NEFMP1,MIR548F1,MTRNR2L5,GAPDHP21,MIR3924,TPT1P10,FAM133CP,RN7SKP196,LINC00844,RPLP1P10,TRAF6P1,MRPL50P4,LINC01553,DYNC1I2P1,SGMS1-AS1,BEND3P1,CTSLP4,ASAH2B,THAP12P3,MRPS35P3,CISD1,UBE2D1,TFAM,FAM13C,SLC16A9,MRLN,ASAH2,A1CF,PRKG1-AS1,LNCAROD,ZWINT,IPMK,PHYHIPL,CCDC6,ANK3,PRKG1,PCDH15,SGMS1,BICC1
leppa_16_ASD_discovery_cases-AU032903
De novo
Unknown
Possibly segregated
SNORA74C-1,RPL23AP61,FAM25BP,GPRIN2,RHEBP1,RN7SL248P,CTSLP2,DUSP8P3,RNA5SP311,GDF2,FAM25G,RNA5SP312,GLUD1P8,DUSP8P4,RN7SL453P,RHEBP2,FAM25C,RNA5SP315,RPS6P14,ARHGAP22-IT1,RPL13AP19,LRRC18,MIR4294,FAM170B,C10orf71-AS1,HMGB1P50,MAPK6P6,RPL21P89,RPL35AP24,SNORA74C-2,LINC00843,RNA5SP317,SLC9A3P3,RNU7-107P,SHQ1P1,NUTM2HP,PGGT1BP1,CCDC58P2,MIR605,RSU1P3,CSTF2T,DKK1,RPL31P44,MBL2,SNRPEP8,RNA5SP318,RNU6-687P,NEFMP1,MIR548F1,MTRNR2L5,GAPDHP21,MIR3924,TPT1P10,FAM133CP,RN7SKP196,LINC00844,RPLP1P10,TRAF6P1,MRPL50P4,LINC01553,RPL35AP25,TIMM23,MSMB,AGAP7P,ANTXRL,AGAP14P,ANXA8L1,HNRNPA1P33,NPY4R,SYT15,SHLD2P1,GLUD1P2,AGAP13P,FRMPD2B,GDF10,RBP3,ZNF488,ANXA8,AGAP9,BMS1P2,NPY4R2,AGAP12P,BMS1P7,FAM170B-AS1,TMEM273,C10orf71,DRGX,ERCC6,CHAT,SLC18A3,C10orf53,OGDHL,TIMM23B,AGAP6,FAM21EP,SLC9A3P1,DYNC1I2P1,SGMS1-AS1,BEND3P1,CTSLP4,ASAH2B,THAP12P3,MRPS35P3,CISD1,UBE2D1,TFAM,FAM13C,SLC16A9,MRLN,PARGP1,NCOA4,ANTXRLP1,LINC00842,BMS1P1,PTPN20,SHLD2P3,PTPN20CP,MAPK8,ARHGAP22,WDFY4,VSTM4,PARG,WASHC2A,ASAH2,A1CF,PRKG1-AS1,LNCAROD,ZWINT,IPMK,PHYHIPL,CCDC6,ANK3,FRMPD2,PRKG1,PCDH15,SGMS1,BICC1
sebat_07_ASD_discovery_cases-AU032903
390K ROMA or Agilent 244K aCGH, G-banded karyotyping
De novo
Multiplex
NA
C10orf53,OGDHL,PARG,AGAP8,LOC728407,AGAP7,MSMB,NCOA4,TIMM23,AGAP6,FLJ31813,FAM21A,FAM21B,ASAH2,SGMS1,ASAH2B,A1CF,PRKG1,MIR605,CSTF2T,LOC100506939,DKK1,MBL2,PCDH15,MTRNR2L5,ZWINT,MIR3924,IPMK,CISD1,UBE2D1,TFAM,BICC1,LOC728640,PHYHIPL,FAM13C,SLC16A9,M1,CCDC6,C10orf40,ANK3
Controls
No Control Data Available
No Animal Model Data Available