9q22.31-q22.32CNV Type: Duplication
Largest CNV size: 1288204 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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
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
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
2562557
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
2380724
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
1288204
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
girirajan_13a_ASD_discovery_cases-13727.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
91597704
94160261
2562558
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13727.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
91723661
94104385
2380725
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11405.p1
NA
F
ASD
NA
NA
93025540
94313743
1288204
GRCh38
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
girirajan_13a_ASD_discovery_cases-13727.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
PAICSP2,MIR3910-1,MIR3910-2,HSPE1P22,MTATP6P29,MTCO3P29,MTND3P23,MTND4P15,BEND3P2,MIR3651,SNORA84,MIR4670,RNU6-714P,EEF1DP2,SNX18P2,RNU6-829P,MIR548AU,MIR4291,BARX1,BARX1-DT,CYCSP24,MTND4LP7,NOL8,OGN,OMD,ASPN,ECM2,BICD2,ANKRD19P,ZNF484,ALOX15P2,FGD3,CARD19,NINJ1,FAM120AOS,ROR2,SPTLC1,LINC00475,CENPP,IPPK,SUSD3,WNK2,FAM120A,PHF2,PTPDC1,C9orf129,IARS
krumm_15_ASD_discovery_cases-case13727.p1
Omni2.5-4v1
De novo
Simplex
Segregated
HSPE1P22,MTATP6P29,MTCO3P29,MTND3P23,MTND4P15,BEND3P2,MIR3651,SNORA84,MIR4670,RNU6-714P,EEF1DP2,SNX18P2,RNU6-829P,MIR548AU,MIR4291,BARX1,BARX1-DT,CYCSP24,MTND4LP7,NOL8,OGN,OMD,ASPN,ECM2,BICD2,ANKRD19P,ZNF484,ALOX15P2,FGD3,CARD19,NINJ1,FAM120AOS,ROR2,SPTLC1,LINC00475,CENPP,IPPK,SUSD3,WNK2,FAM120A,PHF2,PTPDC1,C9orf129,IARS
levy_11_ASD_discovery_cases-11405.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
RNU6-829P,MIR548AU,MIR4291,BARX1,BARX1-DT,CYCSP24,MIRLET7A1,MIRLET7F1,MIRLET7D,VDAC1P11,FGD3,CARD19,NINJ1,FAM120AOS,LINC02603,ZNF169,SUSD3,WNK2,FAM120A,PHF2,PTPDC1,C9orf129
Controls
No Control Data Available
No Animal Model Data Available