4p12CNV Type: Deletion-Duplication
Largest CNV size: 409189 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
28706
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
94002
2
2
4
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
12485
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
390783
0
3
3
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
47928
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
88505
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
409189
2
3
5
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
94002
2
3
5
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
13510
0
2
2
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
378
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
390783
0
1
1
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
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
390787
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
409189
0
2
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
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
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
egger_14_ASD_discovery_cases-caseA6
N/A
N/A
ASD
CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
48184925
48213630
28706
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2190_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47662033
47750537
88505
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case2205_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48644577
48738579
94003
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2291_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47825353
47859328
33976
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4453_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48854116
48910011
55896
GRCh38
Deletion
No
krumm_13_ASD_discovery_cases-case12524.p1
N/A
F
ASD
ASD proband from SSC quad family 12524. SRS score of 80.
Full-scale IQ (FSIQ) score of 146.
48163701
48176186
12486
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11940.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
47623570
47653660
30091
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12524.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
48163684
48176188
12505
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13012.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
47512540
47903323
390784
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11940.p1
NA
F
ASD
NA
NA
47606086
47654013
47928
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case2190_1
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
47662033
47750537
88505
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11940.p1
8.3
F
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 109; verbal IQ, 121
47607647
47641033
33387
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12078.p1
9.2
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
48738579
48762942
24364
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12265.p1
6.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 96; verbal IQ, 78
48879424
48884713
5290
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12524.p1
6.4
F
Autism
NA
Full-scale IQ, 146; non-verbal IQ, 130; verbal IQ, 166
48163740
48193925
30186
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13012.p1
5.8
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 60; verbal IQ, 21
47490053
47899242
409190
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
engchuan_15_ASD_discovery_controls-controlB412435_1007854191
N/A
N/A
Control
No previous psychiatric history
46463501
46507507
44007
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
N/A
N/A
Control
No previous psychiatric history
48016153
48049986
33834
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900124_900124
N/A
N/A
Control
No previous psychiatric history
48726216
48762942
36727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901041_901041
N/A
N/A
Control
No previous psychiatric history
48644577
48738579
94003
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902625_902625
N/A
N/A
Control
No previous psychiatric history
48644577
48738579
94003
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1394
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
48182433
48195942
13510
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split210
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
48182433
48195942
13510
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control12962.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12962. SRS score of 37.
47623570
47623948
379
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control13012.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
47512540
47903323
390784
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C28920A
N/A
F
Control
NIMH Control (NIMH ID 61388)
47512539
47903325
390787
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12499.s1
9.4
M
Control (matched sibling)
NA
NA
48163740
48194477
30738
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13012.s1
4.3
F
Control (matched sibling)
NA
NA
47490053
47899242
409190
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
egger_14_ASD_discovery_cases-caseA6
Unknown
Unknown
TEC
engchuan_15_ASD_discovery_cases-case2190_1
De novo
CORIN
engchuan_15_ASD_discovery_cases-case2205_1
Unknown
FRYL
engchuan_15_ASD_discovery_cases-case2291_1
Unknown
NFXL1,CORIN
engchuan_15_ASD_discovery_cases-case4453_1
Unknown
OCIAD1,OCIAD1-AS1,OCIAD2
krumm_13_ASD_discovery_cases-case12524.p1
Paternal
Simplex
Segregated
TEC
krumm_15_ASD_discovery_cases-case11940.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MIR8053,CORIN
krumm_15_ASD_discovery_cases-case12524.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
TEC
krumm_15_ASD_discovery_cases-case13012.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR8053,NFXL1,ATP10D,CORIN
levy_11_ASD_discovery_cases-11940.p1
Maternal
Simplex
Segregated
MIR8053,CORIN
pinto_14_ASD_discovery_cases2-case2190_1
qPCR
Paternal
Simplex
(not tested)
CORIN
sanders_11_ASD_discovery_cases-11940.p1
Maternal
Simplex (quad-proband matched)
Segregated
CORIN
sanders_11_ASD_discovery_cases-12078.p1
Maternal
Simplex (quad-proband matched)
Segregated
FRYL
sanders_11_ASD_discovery_cases-12265.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12524.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TEC
sanders_11_ASD_discovery_cases-13012.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR8053,NFXL1,ATP10D,CORIN
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB412435_1007854191
Unknown
GABRA2
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
Unknown
NIPAL1,CNGA1
engchuan_15_ASD_discovery_controls-controlHABC_900124_900124
Unknown
FRYL
engchuan_15_ASD_discovery_controls-controlHABC_901041_901041
Unknown
FRYL
engchuan_15_ASD_discovery_controls-controlHABC_902625_902625
Unknown
FRYL
kanduri_15_ASD_discovery_controls-control_split1394
Unknown
TEC (intronic)
kanduri_15_ASD_discovery_controls-control_split210
Unknown
TEC (intronic)
krumm_13_ASD_discovery_controls-control12962.s1
Maternal
Simplex
CORIN
krumm_15_ASD_discovery_controls-control13012.s1
Illumina 1MDuo
Maternal
MIR8053,NFXL1,ATP10D,CORIN
poultney_13_ASD_discovery_controls-control04C28920A
Unknown
MIR8053,NFXL1,ATP10D,CORIN
sanders_11_ASD_discovery_controls-12499.s1
Paternal
Simplex (quad)
NA
TEC
sanders_11_ASD_discovery_controls-13012.s1
Maternal
Simplex (quad)
NA
MIR8053,NFXL1,ATP10D,CORIN
No Animal Model Data Available