18q21.31CNV Type: Deletion-Duplication
Largest CNV size: 634169 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
alayadhi_16_ASD_discovery_cases
ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
22
All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
N/A
100% Male
10542
0
2
2
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
316000
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
2071
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
8532
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
29623
1
0
1
li_18_ASD_discovery_cases
Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
13
Diagnosis of ASD made according to DSM-IV
Mean age, 4.56 0.97 years
92.31% Male
445826
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
634169
0
1
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
934024
0
1
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
216394
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
11420
6
0
6
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
78410
1
1
2
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
1006
1
0
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
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
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
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)
934024
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.
25605
2
1
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
alayadhi_16_ASD_discovery_cases
Saudi
Solid phase hybridization
Illumina HumanOmni 2.5M
CNVPartition v.3.2.0, Penn CNV
Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
qPCR
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
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
li_18_ASD_discovery_cases
Chinese
Low-coverage WGS
Illumina HiSeq 2000 or 2500 analyzers
PSCC
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
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_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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
alayadhi_16_ASD_discovery_cases-caseAUT11-1
N/A
M
Autism
CARS score of 35.0; Social Responsiveness Scale (SRS) score of 75; Sensory profile score of 180.
59985406
59995947
10542
GRCh38
Duplication
Yes
alayadhi_16_ASD_discovery_cases-caseAUT11-2
N/A
M
Autism
CARS score of 35.5; Social Responsiveness Scale (SRS) score N/A; Sensory profile score N/A.
59985406
59995947
10542
GRCh38
Duplication
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case7
4 yrs. 9 mos.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Mild DD/ID
55366930
55683262
316333
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case1-0677-003
N/A
F
ASD
Case from MSSNG cohort
57028398
57030468
2071
GRCh38
Deletion
No
krumm_15_ASD_discovery_cases-case13662.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
57550711
57559243
8533
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-12521.p1
NA
F
ASD
NA
NA
57790033
57819655
29623
GRCh38
Deletion
No
li_18_ASD_discovery_cases-case5101
N/A
M
ASD
Diagnosis of ASD made according to DSM-IV
57270091
57715916
445826
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0014-003
NA
M
ASD
NA
NA
56713023
57347192
634170
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case78699L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
52545309
53479332
934024
Unknown
Duplication
No
rosenfeld_10_ASD_discovery_cases-case25557
NA
NA
ASD
NA
NA
53203717
53420111
216394
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11028.p1
9
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 106
58268755
58269877
1123
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11054.p1
13
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 84
58268755
58269877
1123
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11452.p1
8.5
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
58268755
58269877
1123
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12019.p1
9.1
M
ASD
NA
Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
58268755
58269877
1123
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12041.p1
6.7
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
58013795
58025215
11421
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12071.p1
11.7
F
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
56679251
56687008
7758
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-controlHABC_900736_900736
N/A
N/A
Control
No previous psychiatric history
57711032
57789442
78411
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901083_901083
N/A
N/A
Control
No previous psychiatric history
56344645
56383462
38818
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1305
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
55936104
55937109
1006
Unknown
Deletion
No
sanders_11_ASD_discovery_controls-11452.s1
6.8
M
Control (matched sibling)
NA
NA
58268755
58269877
1123
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11552.s1
6
F
Control (matched sibling)
NA
NA
58268755
58269877
1123
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11578.s1
10.8
M
Control (matched sibling)
NA
NA
56574741
56600346
25606
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
alayadhi_16_ASD_discovery_cases-caseAUT11-1
qPCR
De novo (CNV not observed in either parent)
Multiplex
alayadhi_16_ASD_discovery_cases-caseAUT11-2
qPCR
De novo (CNV not observed in either parent)
Multiplex
battaglia_13_DD/ID/ASD_discovery_cases-case7
FISH or qPCR
De novo
Unknown
Unknown
MIR4529,RPL21P126,TCF4-AS1,TCF4-AS2,TCF4
brandler_18_ASD_replication_cases-case1-0677-003
No validation step reported
Maternal
WDR7-OT1,WDR7
krumm_15_ASD_discovery_cases-case13662.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
FECH
levy_11_ASD_discovery_cases-12521.p1
De novo
Simplex
Segregated
ATP8B1
li_18_ASD_discovery_cases-case5101
Unknown
Simplex
Unknown
RNU6-737P,ST8SIA3,ONECUT2,FECH,NARS,ATP8B1
marshall_08_ASD_discovery_cases-SK0014-003
qPCR, qmPCR
Unknown
NA
NA
LINC02565,RNU6-737P,WDR7-OT1,LINC-ROR,WDR7,BOD1L2
prasad_12_ASD_discovery_cases-case78699L
Unknown
Unknown
Unknown
WDR7,ONECUT2,ST8SIA3,NARS,BOD1P,ATP8B1,FECH
rosenfeld_10_ASD_discovery_cases-case25557
FISH
Paternal
Unknown
Unknown
ONECUT2,FECH,NARS
sanders_11_ASD_discovery_cases-11028.p1
Maternal
Simplex (quad-proband matched)
Segregated
NEDD4L
sanders_11_ASD_discovery_cases-11054.p1
Paternal
Simplex (quad-proband matched)
Segregated
NEDD4L
sanders_11_ASD_discovery_cases-11452.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NEDD4L
sanders_11_ASD_discovery_cases-12019.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
NEDD4L
sanders_11_ASD_discovery_cases-12041.p1
Unknown
Simplex (quad-proband matched)
Segregated
HMGN1P30
sanders_11_ASD_discovery_cases-12071.p1
Unknown
Simplex (quad-proband matched)
Not segregated
WDR7
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900736_900736
Unknown
RNU6-742P,ATP8B1
engchuan_15_ASD_discovery_controls-controlHABC_901083_901083
Unknown
kanduri_15_ASD_discovery_controls-control_split1305
Unknown
NEDD4L (intronic)
sanders_11_ASD_discovery_controls-11452.s1
Paternal
Simplex (quad)
NA
NEDD4L
sanders_11_ASD_discovery_controls-11552.s1
Maternal
Simplex (quad)
NA
NEDD4L
sanders_11_ASD_discovery_controls-11578.s1
Paternal
Simplex (quad)
NA
TXNL1
No Animal Model Data Available