5q23.3CNV Type: Deletion-Duplication
Largest CNV size: 464201 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
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
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
De novo rates and selection of large copy number variation.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
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
225662
2
2
4
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
421000
0
1
1
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
47230
0
1
1
kalsner_17_ASD_discovery_cases
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
100
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Range, 21 mos.-17 yrs.
76.0% Male
383000
1
0
1
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
559564
2
1
3
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
4917
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
20721
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
464201
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
225663
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
491644
3
2
5
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
19825
2
3
5
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
225662
5
2
7
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
4917
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
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)
491644
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.
4916
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
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kalsner_17_ASD_discovery_cases
52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
CMA
Platform not reported
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
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
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
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
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
engchuan_15_ASD_discovery_cases-case17030_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
129146661
129339645
192985
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4550_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
129013502
129078884
65383
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5300_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
130136029
130361691
225663
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8437_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
128409132
128525194
116063
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-13150.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
130946408
131366408
420001
GRCh38
Duplication
No
itsara_10_ASD_discovery_cases-HI5158
NA
NA
Autism
NA
NA
130766330
130813560
47231
GRCh38
Duplication
Yes
kalsner_17_ASD_discovery_cases-case6
N/A
N/A
ASD
Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
130914307
131214390
300084
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001688
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
128288872
128630392
341521
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002139
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
128441672
128565049
123378
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004532
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
130198251
130757815
559565
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1908
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
128298437
128303353
4917
Unknown
Duplication
No
krumm_15_ASD_discovery_cases-case13150.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
131159446
131180167
20722
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0077-003
NA
M
ASD
NA
NA
129605207
130069408
464202
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5300_3
NA
M
ASD
NA
NA
130136029
130361691
225663
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case100674L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
130161545
130234240
72696
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case107433
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
129498939
129731537
232599
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case46486
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
128325907
128331480
5574
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case48226
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
128918195
129409838
491644
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case59986
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
128316173
128331480
15308
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11309.p1
16.1
M
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 34; verbal IQ, 26
128962744
128967660
4917
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11445.p1
8.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 67
128962744
128967660
4917
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
128962744
128967660
4917
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11981.p1
6.6
F
Aspergers
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
128962744
128967660
4917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12937.p1
17.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
130415782
130435607
19826
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-control110036016517_
N/A
N/A
Control
No previous psychiatric history
130783430
130813560
30131
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036016558_
N/A
N/A
Control
No previous psychiatric history
130681594
130813560
131967
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB102147_1007853660
N/A
N/A
Control
No previous psychiatric history
130136029
130361691
225663
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB711310_0067942611
N/A
N/A
Control
No previous psychiatric history
129292101
129477834
185734
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB845301_1007875784
N/A
N/A
Control
No previous psychiatric history
129173719
129361436
187718
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900122_900122
N/A
N/A
Control
No previous psychiatric history
129466822
129559592
92771
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902631_902631
N/A
N/A
Control
No previous psychiatric history
130840509
130914261
73753
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1396
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
128298437
128303353
4917
Unknown
Duplication
No
sanders_11_ASD_discovery_controls-11330.s1
11.8
F
Control (matched sibling)
NA
NA
129292101
129295132
3032
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
128962744
128967660
4917
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12540.s1
4.5
F
Control (matched sibling)
NA
NA
129292101
129295132
3032
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-case17030_1
Unknown
engchuan_15_ASD_discovery_cases-case4550_1
Unknown
SLC27A6
engchuan_15_ASD_discovery_cases-case5300_3
Unknown
HSPA8P4,CHSY3
engchuan_15_ASD_discovery_cases-case8437_202
Unknown
FBN2
girirajan_13a_ASD_discovery_cases-13150.p1
Unknown
Simplex
Unknown
HINT1,LYRM7,CDC42SE2
itsara_10_ASD_discovery_cases-HI5158
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
kalsner_17_ASD_discovery_cases-case6
Unknown
Unknown
Unknown
HINT1,LYRM7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001688
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
FBN2,SLC27A6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002139
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
FBN2,SLC27A6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004532
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU7-53P,ARL2BPP4
kanduri_15_ASD_discovery_cases-case1908
De novo
Unknown
Unknown
SLC27A6
krumm_15_ASD_discovery_cases-case13150.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
HINT1,LYRM7
marshall_08_ASD_discovery_cases-SK0077-003
qPCR, qmPCR
Unknown
NA
NA
RNU6ATAC10P,ADAMTS19,CHSY3
pinto_10_ASD_discovery_cases-case5300_3
Agilent1M-Paternal
paternal
NA
NA
HSPA8P4,CHSY3
prasad_12_ASD_discovery_cases-case100674L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case107433
Unknown
Unknown
Unknown
CHSY3
prasad_12_ASD_discovery_cases-case46486
Unknown
Unknown
Unknown
SLC27A6
prasad_12_ASD_discovery_cases-case48226
Unknown
Unknown
Unknown
ADAMTS19,CHSY3
prasad_12_ASD_discovery_cases-case59986
Unknown
Unknown
Unknown
SLC27A6
sanders_11_ASD_discovery_cases-11309.p1
Paternal
Simplex (quad-proband matched)
Segregated
SLC27A6
sanders_11_ASD_discovery_cases-11445.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SLC27A6
sanders_11_ASD_discovery_cases-11567.p1
Maternal
Simplex (quad-proband matched)
Segregated
SLC27A6
sanders_11_ASD_discovery_cases-11981.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SLC27A6
sanders_11_ASD_discovery_cases-12937.p1
Unknown
Simplex (quad-proband matched)
Segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036016517_
Unknown
engchuan_15_ASD_discovery_controls-control110036016558_
Unknown
engchuan_15_ASD_discovery_controls-controlB102147_1007853660
Unknown
HSPA8P4,CHSY3
engchuan_15_ASD_discovery_controls-controlB711310_0067942611
Unknown
MIR4460,ADAMTS19-AS1,ADAMTS19
engchuan_15_ASD_discovery_controls-controlB845301_1007875784
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900122_900122
Unknown
ADAMTS19
engchuan_15_ASD_discovery_controls-controlHABC_902631_902631
Unknown
kanduri_15_ASD_discovery_controls-control_split1396
Unknown
SLC27A6
sanders_11_ASD_discovery_controls-11330.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11981.s1
Maternal
Simplex (quad)
NA
SLC27A6
sanders_11_ASD_discovery_controls-12540.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available