18q22.2CNV Type: Deletion-Duplication
Largest CNV size: 138132 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy Number Variations independently induce Autism Spectrum Disorder.
Duplication
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
672762
2
3
5
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
264291
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
242000
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
240000
0
1
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
66250
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
66934
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
138132
5
1
6
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
252225
0
1
1
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
66249
2
1
3
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
339864
0
1
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
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
80545
0
1
1
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
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
66934
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.
4890
4
0
4
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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-case14230_3640
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70416045
71088807
672763
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14235_2490
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70462475
70499331
36857
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20165_1702001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70765110
70813858
48749
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5111_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70497538
70563787
66250
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8571_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69313274
69363307
50034
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000230
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
69556939
69821230
264292
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14281.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
69599383
69841383
242001
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown76
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
69832153
70018100
185948
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5111_3
NA
M
Autism
Language delay, nonverbal at age 8, no epilepsy, physical examination normal except for some mild dysmorphic facial features and a large head circumference; brain MRI normal
Below average nonverbal IQ (<1%ile)
70497538
70563787
66250
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case124632L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
66316748
66383681
66934
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11032.p1
5.8
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 84; verbal IQ, 103
69482637
69484370
1734
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11135.p1
6.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
69482637
69484229
1593
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11241.p1
12
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 77; verbal IQ, 80
69482637
69484229
1593
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11296.p1
13.6
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 71
69482637
69484370
1734
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12028.p1
9.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 80
70765110
70823891
58782
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12780.p1
7.8
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 110; verbal IQ, 121
69336083
69474215
138133
GRCh38
Duplication
No
yingjun_17_ASD_discovery_cases-case9266
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
70393486
70645711
252226
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-controlB616228_1007853931
N/A
N/A
Control
No previous psychiatric history
70451681
70499331
47651
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB763377_1007853322
N/A
N/A
Control
No previous psychiatric history
70497538
70563787
66250
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902566_902566
N/A
N/A
Control
No previous psychiatric history
70497538
70563787
66250
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_42
NA
NA
Control
NA
NA
70576855
70916719
339865
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split797
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
68092510
68173054
80545
Unknown
Duplication
No
sanders_11_ASD_discovery_controls-11135.s1
12.9
F
Control (matched sibling)
NA
NA
69482637
69484370
1734
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11241.s1
11.9
M
Control (matched sibling)
NA
NA
69482637
69484229
1593
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
69482637
69484229
1593
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13166.s1
5.6
M
Control (matched sibling)
NA
NA
69086870
69091760
4891
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-case14230_3640
Unknown
RPS2P6,RN7SL795P,GTSCR1
engchuan_15_ASD_discovery_cases-case14235_2490
Unknown
engchuan_15_ASD_discovery_cases-case20165_1702001
Unknown
engchuan_15_ASD_discovery_cases-case5111_3
Unknown
RN7SL795P
engchuan_15_ASD_discovery_cases-case8571_201
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000230
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DOK6
krumm_15_ASD_discovery_cases-case14281.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
DOK6,CD226
maini_18_ASD/DD/ID_discovery_cases-case_unknown76
Maternal
Unknown
Unknown
DOK6,CD226,RTTN
pinto_10_ASD_discovery_cases-case5111_3
Agilent1M
maternal
Multiplex
NA
RN7SL795P
prasad_12_ASD_discovery_cases-case124632L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11032.p1
Maternal
Simplex (quad-proband matched)
Segregated
DOK6
sanders_11_ASD_discovery_cases-11135.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DOK6
sanders_11_ASD_discovery_cases-11241.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DOK6
sanders_11_ASD_discovery_cases-11296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DOK6
sanders_11_ASD_discovery_cases-12028.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12780.p1
Paternal
Simplex (quad-proband matched)
Segregated
DOK6
yingjun_17_ASD_discovery_cases-case9266
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
LARP7P3,RPS2P6,RN7SL795P,GTSCR1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB616228_1007853931
Unknown
engchuan_15_ASD_discovery_controls-controlB763377_1007853322
Unknown
RN7SL795P
engchuan_15_ASD_discovery_controls-controlHABC_902566_902566
Unknown
RN7SL795P
girirajan_11_ASD_discovery_controls-NIMH_42
Unknown
GTSCR1
kanduri_15_ASD_discovery_controls-control_split797
Unknown
Intergenic CNV: nearest genes, SOCS6(dist=95076),GTSCR1(dist=124701)
sanders_11_ASD_discovery_controls-11135.s1
Maternal
Simplex (quad)
NA
DOK6
sanders_11_ASD_discovery_controls-11241.s1
Paternal
Simplex (quad)
NA
DOK6
sanders_11_ASD_discovery_controls-12638.s1
Paternal
Simplex (quad)
NA
DOK6
sanders_11_ASD_discovery_controls-13166.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available