18q21.33CNV Type: Deletion-Duplication
Largest CNV size: 184475 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
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-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
45808
0
1
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
576817
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
184475
2
1
3
wisniowiecka-kowalnik_12_ASD_discovery_cases
ASD patients from 132 simplex and 13 multiplex families of Polish descent
145
Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.
Range, 3-26 yrs.
84.83% Male
140000
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
377703
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
87539
1
2
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.
336426
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.
14859
2
0
2
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
377703
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
wisniowiecka-kowalnik_12_ASD_discovery_cases
Polish
aCGH
OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
BCM web-based software, custom-designed IMiD-web2py software
FISH
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
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
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
cucinotta_23_ASD_discovery_cases-case255
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
63128674
63174481
45808
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4461_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
62268909
62845726
576818
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11173.p1
10.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 71; verbal IQ 49
63516278
63521073
4796
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12074.p1
6.3
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 79
62813831
62998306
184476
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
63641661
63658671
17011
GRCh38
Deletion
No
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient5
4
F
Autism
Autism, muscle hypotonia, talipes valgus and flat feet
62106642
62252649
146008
GRCh38
Deletion
Yes
yin_16_ASD_discovery_cases-case538
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
62679966
63057668
377703
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-controlB479722_1007875261
N/A
N/A
Control
No previous psychiatric history
63849506
63937045
87540
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB855482_0067949239
N/A
N/A
Control
No previous psychiatric history
62274021
62337020
63000
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900859_900859
N/A
N/A
Control
No previous psychiatric history
63687649
63740127
52479
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_268
NA
NA
Control
NA
NA
61913262
62249688
336427
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
63299164
63314023
14860
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12494.s1
11
F
Control (matched sibling)
NA
NA
63476675
63481090
4416
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cucinotta_23_ASD_discovery_cases-case255
De novo
BCL2
engchuan_15_ASD_discovery_cases-case4461_1
Unknown
RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ZCCHC2,RELCH,TNFRSF11A,PHLPP1
sanders_11_ASD_discovery_cases-11173.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12074.p1
Maternal
Simplex (trio)
NA
PHLPP1
sanders_11_ASD_discovery_cases-12851.p1
Paternal
Simplex (quad-proband matched)
Segregated
SERPINB4,SERPINB3,SERPINB11
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient5
FISH
Maternal
Unknown
Unknown
PIGN,RELCH
yin_16_ASD_discovery_cases-case538
Unknown
Unknown
Unknown
RNU6-142P,PHLPP1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB479722_1007875261
Unknown
SERPINB2,SERPINB10
engchuan_15_ASD_discovery_controls-controlB855482_0067949239
Unknown
RELCH,TNFRSF11A
engchuan_15_ASD_discovery_controls-controlHABC_900859_900859
Unknown
SERPINB11
girirajan_11_ASD_discovery_controls-NIMH_268
Unknown
RPIAP1,PIGN,RELCH
sanders_11_ASD_discovery_controls-12261.s1
Maternal
Simplex (quad)
NA
BCL2
sanders_11_ASD_discovery_controls-12494.s1
Maternal
Simplex (quad)
NA
SERPINB5
No Animal Model Data Available