4q31.1CNV Type: Deletion-Duplication
Largest CNV size: 86530 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
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Deletion
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
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
123921
0
2
2
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1301626
1
0
1
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
276000
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
86530
1
1
2
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
8838
1
0
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
35440
6
0
6
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
3233
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
67406
1
0
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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)
0
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
28074
3
0
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
munnich_19_ASD_discovery_cases
France
aCGH, karyotyping
Agilent 60K
FISH
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
engchuan_15_ASD_discovery_cases-case16043_1571070001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
139125017
139248938
123922
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5318_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
139184227
139270756
86530
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004277
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
138370686
139672312
1301627
GRCh38
Deletion
Yes
munnich_19_ASD_discovery_cases-case5
N/A
F
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
139125174
139401910
276737
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5318_3
NA
M
ASD
NA
NA
139184227
139270756
86530
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case6356_5
NA
M
Autism
No language delay, normal physical exam, no epilepsy
Moderate MR
140478322
140522239
43918
Unknown
Deletion
Yes
poultney_13_ASD_discovery_cases-case99HI0744A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU007504; NDAR ID NDAR_INVCU989WJU)
140559894
140568731
8838
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11247.p1
5.8
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
139104959
139125017
20059
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12115.p1
12.1
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 107; verbal IQ, 94
140360474
140388548
28075
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12152.p1
8.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118
140360474
140395914
35441
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12864.p1
5.8
F
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 65; verbal IQ, 81
139606522
139607458
937
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13013.p1
8.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
138971533
138994729
23197
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13195.p1
8.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
138765757
138787339
21583
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU3906302
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
139347848
139351061
3214
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU3906303
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
139347828
139351061
3234
GRCh38
Deletion
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-controlB855482_0067949239
N/A
N/A
Control
No previous psychiatric history
140293068
140360474
67407
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11247.s1
4.7
F
Control (matched sibling)
NA
NA
139104959
139126895
21937
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12115.s1
8.5
M
Control (matched sibling)
NA
NA
140360474
140388548
28075
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12356.s1
7.8
F
Control (matched sibling)
NA
NA
140360474
140388548
28075
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case16043_1571070001
Unknown
RN7SL311P,RNU6-506P,ELF2
engchuan_15_ASD_discovery_cases-case5318_3
Unknown
RN7SL311P,RNU6-506P,RNU6-1074P,MGARP,NDUFC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004277
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-531P,RN7SL382P,PPP1R14BP3,RN7SL311P,RNU6-506P,RNU6-1074P,MGARP,RNU6-1214P,FTH1P24,LINC00500,NOCT,NDUFC1,ELF2,NAA15,SETD7,MGST2,LINC00499,RAB33B
munnich_19_ASD_discovery_cases-case5
FISH
De novo
RN7SL311P,RNU6-506P,RNU6-1074P,MGARP,RNU6-1214P,NDUFC1,ELF2,NAA15
pinto_10_ASD_discovery_cases-case5318_3
Agilent1M
maternal
NA
NA
RN7SL311P,RNU6-506P,RNU6-1074P,MGARP,NDUFC1
pinto_10_ASD_discovery_cases-case6356_5
qPCR
paternal
Simplex
NA
NARG1 exonic
poultney_13_ASD_discovery_cases-case99HI0744A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
UCP1
sanders_11_ASD_discovery_cases-11247.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPP1R14BP3,ELF2
sanders_11_ASD_discovery_cases-12115.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RPL14P3,SCOC-AS1,CLGN,SCOC
sanders_11_ASD_discovery_cases-12152.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RPL14P3,SCOC-AS1,CLGN,SCOC
sanders_11_ASD_discovery_cases-12864.p1
Paternal
Simplex (quad-proband matched)
Segregated
SETD7
sanders_11_ASD_discovery_cases-13013.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13195.p1
Paternal
Simplex (quad-proband matched)
Not segregated
yuen_17_ASD_discovery_cases-caseAU3906302
Not available
Unknown
Multiplex
Unknown
NAA15
yuen_17_ASD_discovery_cases-caseAU3906303
Not available
Unknown
Multiplex
Unknown
NAA15
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB855482_0067949239
Unknown
NDUFB4P9,SCOC-AS1,SCOC
sanders_11_ASD_discovery_controls-11247.s1
Maternal
Simplex (quad)
NA
PPP1R14BP3,ELF2
sanders_11_ASD_discovery_controls-12115.s1
Unknown
Simplex (quad)
NA
RPL14P3,SCOC-AS1,CLGN,SCOC
sanders_11_ASD_discovery_controls-12356.s1
Unknown
Simplex (quad)
NA
RPL14P3,SCOC-AS1,CLGN,SCOC
No Animal Model Data Available