4q28.3CNV Type: Deletion-Duplication
Largest CNV size: 321375 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
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
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
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
407912
19
9
28
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
95599
2
0
2
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
NA
0
1
1
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
403973
0
2
2
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
664329
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
1051053
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
40020
1
0
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
781000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
126995
1
0
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
321375
2
0
2
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
85535
1
0
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
265839
1
0
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
264596
2
0
2
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
79301
1
2
3
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
304116
3
0
3
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
9
0
9
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
253972
3
0
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
280313
36
3
39
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
103000
1
0
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
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
184159
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
509397
20
18
38
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
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
5842
1
0
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
1051053
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
40020
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
126995
1
0
1
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.
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)
79301
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.
286936
26
3
29
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
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
184159
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
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_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
PCR
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
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_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
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_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
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
engchuan_15_ASD_discovery_cases-case13032_414
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133941306
134063406
122101
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14058_1000
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133997126
134265805
268680
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14163_2670
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
131350817
131460299
109483
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14184_3020
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14188_3120
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
134001210
134265805
264596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14248_3720
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
134544726
134664829
120104
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14330_4440
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
134001210
134265805
264596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14392_5010
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16029_1571001001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
136887774
136931330
43557
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16043_1571070001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
134507300
134638520
131221
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20071_1335001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20136_1236021
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133997126
134265805
268680
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20171_1624001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133345823
133381929
36107
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3160_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
134001210
134265805
264596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3451_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
131574170
131753493
179324
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4177_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
137325992
137412504
86513
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4205_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4233_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
134136228
134169125
32898
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4235_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
134136228
134169125
32898
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4387_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135982188
136037209
55022
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4395_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
137878031
137962031
84001
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4428_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
136971704
137081527
109824
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5072_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
134001210
134265805
264596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5081_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
135782606
135866384
83779
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5378_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
134001210
134265805
264596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6340_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
134001210
134265805
264596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8472_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
131471572
131505375
33804
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8674_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
131025220
131433132
407913
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU0955301
Autism
132505306
132600904
95599
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU0955302
Autism
132505306
132589958
84653
Unknown
Deletion
No
gannon_11_ASD/DD_discovery_cases-patientE
ASD and/or DD
Dysmorphic features: unknown
IQ unknown
NA
NA
NA
Unknown
Duplication
No
girirajan_13b_ASD_discovery_cases-33906106436
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
131042440
131446413
403974
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-34206106447
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
131042440
131412791
370352
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005055
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
136132427
136796756
664330
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12770.p1
N/A
M
ASD
ASD proband from SSC quad family 12770. SRS score of 80.
Full-scale IQ (FSIQ) score of 122.
133150140
134201193
1051054
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11104.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133150140
133190160
40021
GRCh38
Deletion
Yes
lesca_12_EP_discovery_cases-caseDY29
NA
F
Epilepsy
Phenotype: LKS-wiESES. Seizure Characteristics: FS, PS. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 53, performance IQ 45 (at 5.25 years of age).
130299195
131079794
780600
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11104.p1
NA
M
ASD
NA
NA
133094645
133221639
126995
GRCh38
Deletion
No
morrow_08_ASD_discovery_cases-case7001
NA
ASD
NA
NA
135090752
135412127
321375
Unknown
Homozygous deletion
Yes
nord_11_ASD_discovery_cases-214-1
ASD
137760091
137845625
85535
Unknown
Deletion
No
o'roak_12_ASD_discovery_cases-case11715.p1
NA
M
ASD/Autism
Case also identified with de novo ASAH2 frameshift mutation and de novo SLC34A3 synonymous mutation. No additional clinical info available.
High IQ. Non verbal IQ, 95
133999966
134265805
265840
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5072_3
NA
M
ASD
No epilepsy, no dysmorphic features
Average IQ
134001210
134265805
264596
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5081_4
NA
M
ASD
NA
NA
135782606
135866384
83779
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case47383
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
136929535
136998946
69412
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case68672
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
139095338
139174638
79301
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case85983
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
136226726
136245645
18920
Unknown
Duplication
No
rosenfeld_10_ASD_discovery_cases-case20468
NA
NA
ASD
NA
NA
135159947
135464063
304116
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case22054
NA
NA
ASD
NA
NA
135159947
135464063
304116
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case25196
NA
NA
ASD
NA
NA
135162685
135399620
236935
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
Developmental delay: yes. Intellectual disability: N/A.
137169614
137243796
74183
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-096
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
134001210
134255181
253972
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-018
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
134001210
134245328
244119
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
130773312
130880357
107046
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11031.p1
13.8
M
Aspergers
NA
Full-scale IQ, 118; non-verbal IQ, 110; verbal IQ, 128
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11089.p1
5.8
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 39
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
132935081
133027218
92138
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11109.p1
4.5
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ 71
137159607
137176710
17104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11203.p1
7.1
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 95
137258077
137277302
19226
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11300.p1
10.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
137256844
137269240
12397
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11330.p1
10.5
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11455.p1
7.6
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11472.p1
13.7
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
136782879
136789500
6622
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11499.p1
7
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11509.p1
16.8
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 83; verbal IQ, 80
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
135586865
135590244
3380
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11569.p1
9.1
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11715.p1
6.6
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 95; verbal IQ, 101
134001210
134255550
254341
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
134896905
134912040
15136
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11947.p1
13.1
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 28
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11964.p1
12.4
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11966.p1
13.2
M
Autism
NA
Full-scale IQ, 32; non-verbal IQ, 35; verbal IQ, 26
130822503
130829799
7297
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12020.p1
17.3
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
134001210
134265805
264596
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12048.p1
7.2
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
130822503
130858002
35500
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12335.p1
6.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12465.p1
6.2
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 105
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12480.p1
13.1
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12515.p1
6.3
F
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
137780736
137789942
9207
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12532.p1
11.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 135
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12558.p1
10.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12600.p1
7.9
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 69
133582943
133597238
14296
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12616.p1
4.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 113; verbal IQ, 104
137591344
137602128
10785
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12618.p1
5.5
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 102
134001210
134265805
264596
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12698.p1
8.3
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 94; verbal IQ, 72
137931818
137987538
55721
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12784.p1
4.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 106; verbal IQ, 87
133211623
133213176
1554
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12784.p1
4.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 106; verbal IQ, 87
133218495
133257523
39029
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12957.p1
9.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12975.p1
10.4
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
135805870
135808575
2706
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13001.p1
6.3
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
130657513
130829799
172287
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13010.p1
7.9
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 122; verbal IQ, 99
134001210
134281523
280314
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13088.p1
6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 67
135086775
135183991
97217
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13199.p1
15.2
F
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 97
137259590
137269240
9651
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseBAK42
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
137171575
137274947
103373
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case209
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
131667754
131851912
184159
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-control110030096051_
N/A
N/A
Control
No previous psychiatric history
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036009330_
N/A
N/A
Control
No previous psychiatric history
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036023067_
N/A
N/A
Control
No previous psychiatric history
131025220
131430500
405281
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB106347_1007873601
N/A
N/A
Control
No previous psychiatric history
130607042
130708805
101764
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB178854_1007854183
N/A
N/A
Control
No previous psychiatric history
134121704
134188498
66795
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB295219_1007872186
N/A
N/A
Control
No previous psychiatric history
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB586615_1007875854
N/A
N/A
Control
No previous psychiatric history
134001210
134265805
264596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
N/A
N/A
Control
No previous psychiatric history
134063406
134376320
312915
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB714366_1007851282
N/A
N/A
Control
No previous psychiatric history
134001210
134362974
361765
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB807498_1007874668
N/A
N/A
Control
No previous psychiatric history
133941306
134063406
122101
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB877576_1007874042
N/A
N/A
Control
No previous psychiatric history
131959048
132468445
509398
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB885849_1007872260
N/A
N/A
Control
No previous psychiatric history
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB957019_1007844002
N/A
N/A
Control
No previous psychiatric history
133941306
134063406
122101
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB973477_1007842438
N/A
N/A
Control
No previous psychiatric history
131008014
131433132
425119
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900119_900119
N/A
N/A
Control
No previous psychiatric history
134125081
134188231
63151
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900159_900159
N/A
N/A
Control
No previous psychiatric history
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900259_900259
N/A
N/A
Control
No previous psychiatric history
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900267_900267
N/A
N/A
Control
No previous psychiatric history
134125081
134176015
50935
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900284_900284
N/A
N/A
Control
No previous psychiatric history
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900285_900285
N/A
N/A
Control
No previous psychiatric history
136516544
136550377
33834
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900316_900316
N/A
N/A
Control
No previous psychiatric history
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900332_900332
N/A
N/A
Control
No previous psychiatric history
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900389_900389
N/A
N/A
Control
No previous psychiatric history
134001210
134265805
264596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900455_900455
N/A
N/A
Control
No previous psychiatric history
134001210
134265805
264596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900458_900458
N/A
N/A
Control
No previous psychiatric history
135909799
136257747
347949
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900469_900469
N/A
N/A
Control
No previous psychiatric history
134001210
134265805
264596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900478_900478
N/A
N/A
Control
No previous psychiatric history
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900575_900575
N/A
N/A
Control
No previous psychiatric history
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901017_901017
N/A
N/A
Control
No previous psychiatric history
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901121_901121
N/A
N/A
Control
No previous psychiatric history
134001210
134265805
264596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901229_901229
N/A
N/A
Control
No previous psychiatric history
137176295
137269240
92946
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902430_902430
N/A
N/A
Control
No previous psychiatric history
131020178
131433132
412955
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902446_902446
N/A
N/A
Control
No previous psychiatric history
132705832
133086679
380848
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902483_902483
N/A
N/A
Control
No previous psychiatric history
131020178
131433132
412955
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902617_902617
N/A
N/A
Control
No previous psychiatric history
132833644
133096754
263111
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902677_902677
N/A
N/A
Control
No previous psychiatric history
130605780
130708805
103026
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902727_902727
N/A
N/A
Control
No previous psychiatric history
131025220
131433132
407913
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902751_902751
N/A
N/A
Control
No previous psychiatric history
136978368
137081527
103160
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1501
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
132177261
132183102
5842
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control12770.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12770. SRS score of 47.
133150140
134201193
1051054
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11104.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133150140
133190160
40021
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11104.s1
NA
M
Control
NA
NA
133094645
133221639
126995
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11031.s1
12
M
Control (matched sibling)
NA
NA
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11098.s1
5.7
F
Control (matched sibling)
NA
NA
132912583
133034807
122225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11330.s1
11.8
F
Control (matched sibling)
NA
NA
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11543.s1
18.1
F
Control (matched sibling)
NA
NA
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11569.s1
5.6
M
Control (matched sibling)
NA
NA
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11571.s1
6.3
F
Control (matched sibling)
NA
NA
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11584.s1
13.5
M
Control (matched sibling)
NA
NA
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11711.s1
7
M
Control (matched sibling)
NA
NA
132334161
132375426
41266
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11715.s1
6.6
F
Control (matched sibling)
NA
NA
132039903
132171935
132033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11715.s1
6.6
F
Control (matched sibling)
NA
NA
134001210
134288146
286937
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
134896905
134912040
15136
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11810.s1
4.4
F
Control (matched sibling)
NA
NA
134906735
134919456
12722
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11835.s1
8
M
Control (matched sibling)
NA
NA
134001210
134265805
264596
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11905.s1
8.6
F
Control (matched sibling)
NA
NA
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11947.s1
14.5
M
Control (matched sibling)
NA
NA
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
136224627
136235359
10733
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12189.s1
6.7
F
Control (matched sibling)
NA
NA
134896905
134912040
15136
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12210.s1
18.8
M
Control (matched sibling)
NA
NA
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12370.s1
6.3
F
Control (matched sibling)
NA
NA
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12430.s1
8.3
M
Control (matched sibling)
NA
NA
137259590
137269240
9651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12616.s1
7.6
M
Control (matched sibling)
NA
NA
137591137
137602128
10992
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12618.s1
6.8
M
Control (matched sibling)
NA
NA
134008882
134265805
256924
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12695.s1
14.1
M
Control (matched sibling)
NA
NA
133222385
133243464
21080
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12759.s1
5.8
F
Control (matched sibling)
NA
NA
133218495
133243464
24970
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12975.s1
7.3
F
Control (matched sibling)
NA
NA
135805870
135808575
2706
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13001.s1
7.4
M
Control (matched sibling)
NA
NA
130657513
130829799
172287
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13088.s1
13.8
F
Control (matched sibling)
NA
NA
135086775
135174350
87576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13089.s1
11.1
F
Control (matched sibling)
NA
NA
137259590
137269240
9651
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-case13032_414
Unknown
engchuan_15_ASD_discovery_cases-case14058_1000
Unknown
PABPC4L
engchuan_15_ASD_discovery_cases-case14163_2670
Unknown
LINC02377
engchuan_15_ASD_discovery_cases-case14184_3020
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_cases-case14188_3120
Unknown
PABPC4L
engchuan_15_ASD_discovery_cases-case14248_3720
Unknown
engchuan_15_ASD_discovery_cases-case14330_4440
Unknown
PABPC4L
engchuan_15_ASD_discovery_cases-case14392_5010
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_cases-case16029_1571001001
Unknown
LINC02511
engchuan_15_ASD_discovery_cases-case16043_1571070001
Unknown
engchuan_15_ASD_discovery_cases-case20071_1335001
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_cases-case20136_1236021
Unknown
PABPC4L
engchuan_15_ASD_discovery_cases-case20171_1624001
Unknown
engchuan_15_ASD_discovery_cases-case3160_3
Unknown
PABPC4L
engchuan_15_ASD_discovery_cases-case3451_3
Unknown
RN7SL205P
engchuan_15_ASD_discovery_cases-case4177_1
Unknown
engchuan_15_ASD_discovery_cases-case4205_1
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_cases-case4233_1
Unknown
engchuan_15_ASD_discovery_cases-case4235_1
Unknown
engchuan_15_ASD_discovery_cases-case4387_1
Unknown
RNU1-89P
engchuan_15_ASD_discovery_cases-case4395_1
Unknown
engchuan_15_ASD_discovery_cases-case4428_1
Unknown
LINC02511
engchuan_15_ASD_discovery_cases-case5072_3
Unknown
PABPC4L
engchuan_15_ASD_discovery_cases-case5081_4
Unknown
engchuan_15_ASD_discovery_cases-case5378_3
Unknown
PABPC4L
engchuan_15_ASD_discovery_cases-case6340_3
Unknown
PABPC4L
engchuan_15_ASD_discovery_cases-case8472_201
Unknown
LINC02377
engchuan_15_ASD_discovery_cases-case8674_201
Unknown
RNU6-224P,LINC02377
gai_11_ASD_replication_cases-AU0955301
Inherited
0 genes
gai_11_ASD_replication_cases-AU0955302
Inherited
0 genes
gannon_11_ASD/DD_discovery_cases-patientE
Unknown
Unknown
NA
girirajan_13b_ASD_discovery_cases-33906106436
Unknown
Unknown
Unknown
RNU6-224P,LINC02377
girirajan_13b_ASD_discovery_cases-34206106447
Unknown
Unknown
Unknown
RNU6-224P,LINC02377
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005055
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TERF1P3,LINC02511
krumm_13_ASD_discovery_cases-case12770.p1
Paternal
Simplex
Not segregated
PABPC4L,PCDH10
krumm_15_ASD_discovery_cases-case11104.p1
1Mv1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PCDH10
lesca_12_EP_discovery_cases-caseDY29
Unknown
Unknown
Unknown
PGBD4P4,GAPDHP56,LINC02479
levy_11_ASD_discovery_cases-11104.p1
Maternal
Simplex
Not segregated
R3HDM2P1,PCDH10
morrow_08_ASD_discovery_cases-case7001
PCR
Both parents
NA
NA
Noncoding adjacent to PCDH10
nord_11_ASD_discovery_cases-214-1
Maternal
0 genes
o'roak_12_ASD_discovery_cases-case11715.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
PABPC4L
pinto_10_ASD_discovery_cases-case5072_3
Agilent1M
maternal
NA
NA
PABPC4L
pinto_10_ASD_discovery_cases-case5081_4
Agilent1M
paternal
NA
NA
prasad_12_ASD_discovery_cases-case47383
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case68672
Unknown
Unknown
Unknown
LOC641365
prasad_12_ASD_discovery_cases-case85983
Unknown
Unknown
Unknown
0 genes
rosenfeld_10_ASD_discovery_cases-case20468
FISH
Maternal
Unknown
Unknown
PABPC4L
rosenfeld_10_ASD_discovery_cases-case22054
FISH
Maternal
Unknown
Unknown
PABPC4L
rosenfeld_10_ASD_discovery_cases-case25196
FISH
Maternal
Unknown
Unknown
PABPC4L
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
Not tested by qPCR
Unknown
Unknown
Unknown
LINC02510,LINC02511
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-096
Not tested by qPCR
Unknown
Unknown
Unknown
PABPC4L
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-018
Not tested by qPCR
Unknown
Unknown
Unknown
PABPC4L
sanders_11_ASD_discovery_cases-11001.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11031.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11089.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11098.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11109.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
LINC02511
sanders_11_ASD_discovery_cases-11203.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11300.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11330.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11455.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11472.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11499.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11509.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11567.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11569.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11715.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PABPC4L
sanders_11_ASD_discovery_cases-11794.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11947.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11964.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11966.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12020.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PABPC4L
sanders_11_ASD_discovery_cases-12048.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12335.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12465.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12480.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12515.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12532.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12558.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12600.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12616.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02172
sanders_11_ASD_discovery_cases-12618.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PABPC4L
sanders_11_ASD_discovery_cases-12698.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12784.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12784.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12957.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12975.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13001.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13010.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PABPC4L
sanders_11_ASD_discovery_cases-13088.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02485
sanders_11_ASD_discovery_cases-13199.p1
Paternal
Simplex (trio)
NA
soueid_16_ASD_discovery_cases-caseBAK42
Maternal
Simplex
LINC02510,LINC02511
yin_16_ASD_discovery_cases-case209
Unknown
Unknown
Unknown
RN7SL205P,SNHG27
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110030096051_
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-control110036009330_
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-control110036023067_
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlB106347_1007873601
Unknown
engchuan_15_ASD_discovery_controls-controlB178854_1007854183
Unknown
engchuan_15_ASD_discovery_controls-controlB295219_1007872186
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlB586615_1007875854
Unknown
PABPC4L
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
Unknown
PES1P1,PABPC4L
engchuan_15_ASD_discovery_controls-controlB714366_1007851282
Unknown
PES1P1,PABPC4L
engchuan_15_ASD_discovery_controls-controlB807498_1007874668
Unknown
engchuan_15_ASD_discovery_controls-controlB877576_1007874042
Unknown
ELL2P2
engchuan_15_ASD_discovery_controls-controlB885849_1007872260
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlB957019_1007844002
Unknown
engchuan_15_ASD_discovery_controls-controlB973477_1007842438
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlHABC_900119_900119
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900159_900159
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlHABC_900259_900259
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlHABC_900267_900267
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900284_900284
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlHABC_900285_900285
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900316_900316
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlHABC_900332_900332
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlHABC_900389_900389
Unknown
PABPC4L
engchuan_15_ASD_discovery_controls-controlHABC_900455_900455
Unknown
PABPC4L
engchuan_15_ASD_discovery_controls-controlHABC_900458_900458
Unknown
RNU1-89P,LINC00613
engchuan_15_ASD_discovery_controls-controlHABC_900469_900469
Unknown
PABPC4L
engchuan_15_ASD_discovery_controls-controlHABC_900478_900478
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlHABC_900575_900575
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlHABC_901017_901017
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlHABC_901121_901121
Unknown
PABPC4L
engchuan_15_ASD_discovery_controls-controlHABC_901229_901229
Unknown
LINC02510,LINC02511
engchuan_15_ASD_discovery_controls-controlHABC_902430_902430
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlHABC_902446_902446
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902483_902483
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlHABC_902617_902617
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902677_902677
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902727_902727
Unknown
RNU6-224P,LINC02377
engchuan_15_ASD_discovery_controls-controlHABC_902751_902751
Unknown
LINC02511
kanduri_15_ASD_discovery_controls-control_split1501
Unknown
Intergenic CNV: nearest genes, ,PCDH10(dist=1887368)
krumm_13_ASD_discovery_controls-control12770.s1
Paternal
Simplex
PABPC4L,PCDH10
krumm_15_ASD_discovery_controls-control11104.s1
1Mv1
Maternal
PCDH10
levy_11_ASD_discovery_controls-11104.s1
Maternal
Simplex
NA
R3HDM2P1,PCDH10
sanders_11_ASD_discovery_controls-11031.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11098.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11330.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11543.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11569.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11571.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11584.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11711.s1
Maternal
Simplex (quad)
NA
ELL2P2
sanders_11_ASD_discovery_controls-11715.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11715.s1
Maternal
Simplex (quad)
NA
PABPC4L
sanders_11_ASD_discovery_controls-11794.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11810.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11835.s1
Paternal
Simplex (quad)
NA
PABPC4L
sanders_11_ASD_discovery_controls-11905.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11947.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11964.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12117.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12189.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12210.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12370.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12430.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12616.s1
Maternal
Simplex (quad)
NA
LINC02172
sanders_11_ASD_discovery_controls-12618.s1
Paternal
Simplex (quad)
NA
PABPC4L
sanders_11_ASD_discovery_controls-12695.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12759.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12975.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13001.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13088.s1
Maternal
Simplex (quad)
NA
LINC02485
sanders_11_ASD_discovery_controls-13089.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available