11q23.3CNV Type: Deletion-Duplication
Largest CNV size: 90063 bp
Statistics Box:
Number of Reports: 19
Number of Reports: 19
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
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...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
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.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
6333
3
0
3
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
312328
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
90062
0
2
2
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
3660964
0
1
1
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
8106
1
0
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
86515
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
148115
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
160002
1
0
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)
122737
0
1
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
1609804
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
13281
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
87001
0
2
2
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
217000
1
0
1
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)
79544
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
88090
1
2
3
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
14971
3
0
3
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
118586
1
0
1
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
266000
0
1
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
265240
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
1629
1
0
1
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
236339
1
4
5
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
59621
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
13281
0
1
1
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
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
13495
1
0
1
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
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)
88090
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.
43138
6
1
7
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
118586
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
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)
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
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
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
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
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
brandler_18_ASD_replication_cases-case2-1160-003
N/A
F
ASD
Case from MSSNG cohort
118622627
118624010
1384
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-case5-0125-003
N/A
M
ASD
Case from MSSNG cohort
120485867
120486100
234
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseSSC03294
N/A
M
ASD
Case from SSC_phase2 cohort
116897246
116903578
6333
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case178
N/A
M
ASD and developmental delay
Slender build, developmental delay, autism, facial dysmorphism, macrocephaly
117129568
117441895
312328
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1248_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117389359
117479422
90064
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14289_4100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117392387
117479422
87036
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0000820
N/A
F
ASD
Family history: mother presents with anxiety and OCD; father negative for ASD, other mental health diagnoses unknown.
116748481
120409451
3660971
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263739
N/A
M
Developmental delay
Global developmental delay; Abnormal facial shape; Mild short stature; Abnormality of the cardiac septa
118484067
118492173
8107
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU067703
Autism
116768313
116854827
86515
Unknown
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseY73
3 yrs. 4 mos.
M
ASD
117173886
117322000
148115
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case44
4 yrs.
NA
Intellectual disability
Speech delay, neurobehavioral disorder
Intellectual disability
120220345
120380347
160003
GRCh38
Deletion
No
itsara_10_ASD_discovery_cases-HI1097
NA
NA
Autism
NA
NA
117109195
117231932
122738
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004984
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
116436425
118046231
1609807
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12426.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
117279907
117293188
13282
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-MM0112-005
NA
M
ASD
NA
NA
117414054
117479422
65369
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-MM0240-003
NA
F
ASD
NA
NA
118076075
118163075
87001
GRCh38
Duplication
Yes
monteiro_19_ASD_discovery_cases_case12
17 yrs.
M
ASD and intellectual disability
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Birth/neonatal history: large for gestational age. Behavioral/psychiatric evaluation: polyphagia. Dysmorphic features: present. Growth parameters: macrocephaly.
Intellectual disability
120448237
120664754
216518
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1248_5
NA
M
ASD
NA
NA
117389359
117479422
90064
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5119_3
NA
F
Autism
Language delay, no epilepsy; coarse facial features, high hairline, frontal bossing, hypertelorism, clinodactyly
Average nonverbal IQ
117452643
117537452
84810
Unknown
Duplication
Yes
poultney_13_ASD_discovery_cases-case01HI2010A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU067705; NDAR ID NDAR_INVUL990PCP)
117392494
117472038
79545
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case115816L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
118635773
118644981
9209
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case46736
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
116767395
116855484
88090
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case96280L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
118439206
118458629
19424
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11710.p1
6.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
116799112
116814051
14940
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12113.p1
4.1
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
120209176
120212370
3195
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12194.p1
5.7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
119376186
119391157
14972
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case418
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
120368253
120486838
118586
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case2-1294-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Nonverbal Learning Disability
118485285
118751291
266007
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1294-004
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
118485054
118750298
265245
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC12183
N/A
M
Control
Control from SSC_phase1 cohort
118623947
118625577
1631
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB322144_1007854009
N/A
N/A
Control
No previous psychiatric history
118502856
118559804
56949
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB752003_1007876006
N/A
N/A
Control
No previous psychiatric history
116977613
117045026
67414
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900533_900533
N/A
N/A
Control
No previous psychiatric history
117624230
117860569
236340
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900841_900841
N/A
N/A
Control
No previous psychiatric history
119848357
119983805
135449
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902614_902614
N/A
N/A
Control
No previous psychiatric history
117630357
117860569
230213
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split2149
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
120568392
120628012
59621
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control12426.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
117279907
117293188
13282
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C28495
Control
117330880
117344374
13495
Unknown
Deletion
sanders_11_ASD_discovery_controls-11483.s1
12.7
M
Control (matched sibling)
NA
NA
116525896
116537106
11211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11731.s1
5.3
F
Control (matched sibling)
NA
NA
118840360
118850289
9930
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11879.s1
8.1
M
Control (matched sibling)
NA
NA
120209176
120212370
3195
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12201.s1
12.1
M
Control (matched sibling)
NA
NA
116799112
116800022
911
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12339.s1
12.9
F
Control (matched sibling)
NA
NA
119376186
119411504
35319
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12426.s1
4.7
F
Control (matched sibling)
NA
NA
117265354
117297848
32495
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12449.s1
5.3
M
Control (matched sibling)
NA
NA
119376186
119419324
43139
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case2-1160-003
No validation step reported
Paternal
PHLDB1
brandler_18_ASD_replication_cases-case5-0125-003
No validation step reported
Paternal
ARHGEF12
brandler_18_ASD_replication_cases-caseSSC03294
No validation step reported
Maternal
SIK3
chaves_19_ASD/DD/ID_discovery_cases-case178
Unknown
TAGLN,PRR13P3,PAFAH1B2,SIDT2,PCSK7,RNF214,BACE1-AS,CEP164,BACE1,DSCAML1
engchuan_15_ASD_discovery_cases-case1248_5
Unknown
CEP164,DSCAML1
engchuan_15_ASD_discovery_cases-case14289_4100
Unknown
CEP164,DSCAML1
feliciano_19_ASD_discovery_cases-caseSP0000820
De novo
APOA5,APOA4,APOC3,APOA1,RNY4P6,TAGLN,PRR13P3,RN7SL828P,HSPE1P18,CD3G,TTC36,RPL5P30,RNU6-1157P,MIR6716,TREHP1,RNU6-376P,SETP16,CXCR5,MIR4492,RPL23AP64,RPS25,TRAPPC4,HMBS,DPAGT1,PDZD3,RNU6-262P,MCAM,MIR6756,RNF26,C1QTNF5,DUXAP5,RNU6-1123P,NECTIN1-AS1,LINC02744,TLCD5,BUD13,APOA1-AS,PAFAH1B2,SIDT2,PCSK7,RNF214,BACE1-AS,CEP164,FXYD2,FXYD6,TMPRSS13,IL10RA,SMIM35,SCN4B,SCN2B,JAML,MPZL2,CD3E,CD3D,UBE4A,ATP5MG,TMEM25,IFT46,ARCN1,TREH,BCL9L,UPK2,RN7SL688P,FOXR1,CCDC84-DT,SLC37A4,HYOU1,VPS11,C2CD2L,HINFP,ABCG4,NLRX1,CCDC153,MFRP,USP2,THY1,KRT8P7,TRIM29,OAF,POU2F3,ZPR1,SIK3,BACE1,FXYD6-FXYD2,TMPRSS4,MPZL3,PHLDB1,DDX6,CCDC84,CBL,USP2-AS1,NECTIN1,ARHGEF12,KMT2A,DSCAML1
null
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263739
De novo
Simplex
Segregated
KMT2A
gai_11_ASD_replication_cases-AU067703
Inherited
CEP164, DSCAML1
han_22_ASD/DD/ID_discovery_cases-caseY73
Unknown
SIDT2,RNF214,PAFAH1B2,BACE1-AS,TAGLN,PCSK7,CEP164,BACE1
iourov_12_ASD/ID/EP_discovery_cases-case44
Unknown
Unknown
Unknown
TMEM136,OAF,POU2F3,ARHGEF12
itsara_10_ASD_discovery_cases-HI1097
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
TAGLN,PAFAH1B2,SIDT2,PCSK7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004984
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
LINC02151,APOA5,APOA4,APOC3,APOA1,RNY4P6,TAGLN,PRR13P3,BUD13,APOA1-AS,PAFAH1B2,SIDT2,PCSK7,RNF214,BACE1-AS,CEP164,FXYD2,FXYD6,TMPRSS13,IL10RA,SMIM35,ZPR1,SIK3,BACE1,FXYD6-FXYD2,DSCAML1
krumm_15_ASD_discovery_cases-case12426.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
RNF214,BACE1-AS,BACE1
marshall_08_ASD_discovery_cases-MM0112-005
qPCR, qmPCR
Unknown
NA
NA
DSCAML1
marshall_08_ASD_discovery_cases-MM0240-003
qPCR, qmPCR
Unknown
NA
NA
SCN2B,SMIM35,SCN4B,TMPRSS4
monteiro_19_ASD_discovery_cases_case12
De novo
ELOCP22,ARHGEF12,GRIK4
pinto_10_ASD_discovery_cases-case1248_5
Illumina550;Affy5.0
Unknown (potential de novo)
NA
NA
CEP164,DSCAML1
pinto_10_ASD_discovery_cases-case5119_3
qPCR
paternal
Multiplex
Unknown
SCN2B, SCN4B, TMPRSS4
poultney_13_ASD_discovery_cases-case01HI2010A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CEP164,DSCAML1
prasad_12_ASD_discovery_cases-case115816L
Unknown
Unknown
Unknown
CBL
prasad_12_ASD_discovery_cases-case46736
Unknown
Unknown
Unknown
CEP164,DSCAML1
prasad_12_ASD_discovery_cases-case96280L
qPCR
Paternal
Unknown
Unknown
VPS11
sanders_11_ASD_discovery_cases-11710.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12113.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OAF
sanders_11_ASD_discovery_cases-12194.p1
Unknown
Simplex (trio)
NA
USP2,USP2-AS1
yin_16_ASD_discovery_cases-case418
Unknown
Unknown
Unknown
ARHGEF12
yuen_17_ASD_discovery_cases-case2-1294-004
Affymetrix CytoScan HD
Maternal
Multiplex
Not segregated
TTC36,RPL5P30,RNU6-1157P,MIR6716,TREHP1,RNU6-376P,TMEM25,IFT46,ARCN1,TREH,PHLDB1,DDX6,KMT2A
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1294-004
RT-qPCR or WGS
Maternal
TTC36,RPL5P30,RNU6-1157P,MIR6716,TREHP1,RNU6-376P,TMEM25,IFT46,ARCN1,TREH,PHLDB1,DDX6,KMT2A
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC12183
PCR or SNP data validation
Maternal
PHLDB1
engchuan_15_ASD_discovery_controls-controlB322144_1007854009
Unknown
TTC36,TMEM25,IFT46,KMT2A
engchuan_15_ASD_discovery_controls-controlB752003_1007876006
Unknown
RNY4P6,SIK3
engchuan_15_ASD_discovery_controls-controlHABC_900533_900533
Unknown
FXYD2,FXYD6,FXYD6-FXYD2,DSCAML1
engchuan_15_ASD_discovery_controls-controlHABC_900841_900841
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902614_902614
Unknown
FXYD2,FXYD6,FXYD6-FXYD2,DSCAML1
kanduri_15_ASD_discovery_controls-control_split2149
Unknown
GRIK4 (intronic)
krumm_15_ASD_discovery_controls-control12426.s1
Illumina 1MDuo
Paternal
RNF214,BACE1-AS,BACE1
nord_11_ASD_discovery_controls-04C28495
0 genes
sanders_11_ASD_discovery_controls-11483.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11731.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11879.s1
Unknown
Simplex (quad)
NA
OAF
sanders_11_ASD_discovery_controls-12201.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12339.s1
Unknown
Simplex (quad)
NA
USP2,USP2-AS1
sanders_11_ASD_discovery_controls-12426.s1
Paternal
Simplex (quad)
NA
RNF214,BACE1-AS,BACE1
sanders_11_ASD_discovery_controls-12449.s1
Maternal
Simplex (quad)
NA
USP2,THY1,USP2-AS1
No Animal Model Data Available