4q12CNV Type: Deletion-Duplication
Largest CNV size: 265336 bp
Statistics Box:
Number of Reports: 24
Number of Reports: 24
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.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Deletion
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Deletion
Rare structural variation of synapse and neurotransmission genes 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.
Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion-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
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
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
46000
4
0
4
berkel_10_ASD_discovery_cases
Unrelated ASD probands ascertained at Hospital for Sick Children (Toronto) and McMaster Univ. (Hamilton). ASD probands also described in Marshall et al., 2008 CNV report.
396
ASD (diagnosis made using ADI-R and ADOS measures)
80.30% Male
18162
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
398000
0
2
2
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
426651
4
7
11
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
113169
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
23881
1
1
2
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
397000
2
1
3
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
1176935
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
3232368
1
1
2
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
43295
0
1
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
160656
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
400374
1
2
3
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
18162
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
263809
0
1
1
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
35407
2
0
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
78000
1
0
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
93547
1
0
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
93000
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
72629
1
4
5
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
125962
3
3
6
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
936609
0
5
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
265336
23
24
47
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
84763
2
0
2
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
870798
0
2
2
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
428209
2
3
5
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
0
0
0
0
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
1176935
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
39627
0
2
2
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
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
20432
0
1
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
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
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.
28563
1
0
1
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)
125962
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.
145781
13
16
29
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
621984
2
0
2
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
84763
N/A
N/A
N/A
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
870798
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
berkel_10_ASD_discovery_cases
Canadian
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M
Birdsuite, Affymetrix Genotyping Console, iPattern, QuantiSNP, iPattern, PennCNV
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
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
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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
aCGH (NimbleGen 135K array)
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
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_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)
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
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
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
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_13a_ASD_discovery_controls1
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
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
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
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
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
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
asadollahi_14_NDD_discovery_cases-case59484
N/A
M
NDD
Case with unspecified neurodevelopmental disorder
51993463
51995816
2354
GRCh38
Deletion
Yes
asadollahi_14_NDD_discovery_cases-case60324
N/A
F
NDD
Case with unspecified neurodevelopmental disorder. Two affected female siblings (triplets)
52018257
52064024
45768
GRCh38
Deletion
Yes
asadollahi_14_NDD_discovery_cases-case60407
N/A
F
NDD
Case with unspecified neurodevelopmental disorder. Two affected female siblings (triplets)
52018257
52064024
45768
GRCh38
Deletion
Yes
asadollahi_14_NDD_discovery_cases-case66928
N/A
F
NDD
Case with unspecified neurodevelopmental disorder. Two affected female siblings (triplets)
52018257
52064024
45768
GRCh38
Deletion
Yes
berkel_10_ASD_discovery_cases-SK0217-003
NA
F
ASD
Final research diagnosis of autism (ADOS). ADOS (module 2) scores: communication, 6; social interaction, 10; total, 16; severity score, 8. Normal growth and phenotype; motor delay evident at 5 months; slow reactions and adaption; little mimic. Normal family history. Proband was previously described in Marshall et al., 2008 CNV study (only the 6q21 duplication was identified in that study)
Leiter-R brief full-scale IQ: 67 (1 %ile)
18162
NCBI36
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300147
N/A
F
Developmental delay/intellectual disability
56216498
56414428
197931
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300374
N/A
M
Developmental delay/intellectual disability
53899849
54298132
398284
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13041_503
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
53265171
53325947
60777
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14027_520
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
53605505
53670532
65028
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14185_3040
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54290213
54457965
167753
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14186_3050
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
53150074
53234837
84764
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14353_4670
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57856099
57894620
38522
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14418_5270
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
53605505
53670532
65028
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21035_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
58565388
58631729
66342
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2273_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57273804
57700455
426652
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4176_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56192040
56247917
55878
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5037_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
51917856
51964278
46423
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5391_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55047767
55120395
72629
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU060404
Autism
56639795
56752963
113169
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case574-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
53204782
53225011
20230
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case666-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
55890035
55913916
23882
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11014.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
56489077
56749077
260001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13871.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
55979077
56369077
390001
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-AU055005
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
54232413
54277419
45007
GRCh38
Deletion
Yes
griswold_12_ASD_discovery_cases-case37036
NA
NA
ASD/autism
NA
NA
55136498
56313434
1176937
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000963
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
51870025
55102392
3232368
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004215
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
56301201
56829410
528210
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case3087
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.
58055260
58098554
43295
Unknown
Duplication
No
krumm_13_ASD_discovery_cases-case11014.p1
N/A
M
ASD
ASD proband from SSC quad family 11014. SRS score of 75.
Full-scale IQ (FSIQ) score of 148.
56495356
56656012
160657
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11014.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
56511331
56656012
144682
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12922.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
54274840
54295272
20433
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13871.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55971269
56371643
400375
GRCh38
Deletion
Yes
leblond_12_ASD_replication_cases-Pintocase5237_3
NA
M
Autism
Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
Below average non-verbal IQ (<1st %ile)
56737516
56755677
18162
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11014.p1
NA
M
ASD
NA
NA
56492205
56756013
263809
GRCh38
Duplication
No
lintas_17_ASD_discovery_cases-case15.2
N/A
N/A
PDD-NOS
No additional clinical information available
54147131
54182538
35408
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case15.3
N/A
N/A
PDD-NOS
No additional clinical information available
54147131
54182538
35408
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case75
3 yrs.
M
ASD and language delay
Birth history: born at 37 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: ASD. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Dysmorphic features: prominent forehead, everted lower eyelid. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Normal (no intellectual disability or learning disorder)
55556615
55634453
77839
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-NA0044-000
NA
M
ASD
NA
NA
55011069
55104615
93547
GRCh38
Deletion
Yes
napoli_17_ASD_discovery_cases-case29
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
53101459
53194742
93284
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case1184_3
NA
M
ASD
NA
NA
57189094
57232388
43295
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5037_3
NA
M
ASD
NA
NA
51917856
51964278
46423
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5139_3
NA
F
ASD
NA
NA
57189094
57232388
43295
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5391_3
NA
M
ASD
NA
NA
55047767
55120395
72629
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5413_3
NA
M
ASD
NA
NA
57189094
57232388
43295
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case128122
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
57676862
57683744
6883
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case131698
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
56203570
56294695
91126
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case139366L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
55622530
55689640
67111
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60980L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
58803868
58929829
125962
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case61028L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
52480143
52528266
48124
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case83555L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
57708111
57723394
15284
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1019-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: no.
57189094
57232388
43295
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1297-0
N/A
N/A
CBLH-PMG
Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
56233443
57170051
936609
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1324-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: no. Intellectual disability: no.
56111874
56236881
125008
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-097
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
57189094
57232388
43295
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-250
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
57189094
57220870
31777
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11014.p1
9.6
M
Autism
NA
Full-scale IQ, 148; non-verbal IQ, 158; verbal IQ, 113
56492535
56757871
265337
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11030.p1
8.3
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
53730248
53736543
6296
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11048.p1
6.5
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
53676034
53677075
1042
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11059.p1
6.6
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 103; verbal IQ, 119
53730248
53736543
6296
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11071.p1
13.9
F
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
52225586
52256766
31181
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
57856099
57857179
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
57189094
57232388
43295
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11168.p1
11.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
53676034
53677075
1042
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11198.p1
11.9
M
Autism
NA
Full-scale IQ, 120; non-verbal IQ, 115; verbal IQ, 123
53676034
53677075
1042
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11247.p1
5.8
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
57189094
57232388
43295
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11333.p1
9.8
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
56673032
56676828
3797
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11343.p1
8.3
M
ASD
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
57856099
57857179
1081
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11459.p1
11.2
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 88; verbal IQ, 71
57773095
57789757
16663
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11489.p1
10.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 108; verbal IQ, 104
57189094
57232388
43295
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11504.p1
8.2
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 108; verbal IQ, 119
57856099
57857179
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11565.p1
10.8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 109
57189094
57232388
43295
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11604.p1
17.2
F
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 23; verbal IQ 13
57784693
57808118
23426
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11781.p1
7
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 86; verbal IQ, 88
57187577
57232388
44812
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11811.p1
16.9
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 80
53676034
53677075
1042
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11835.p1
6.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77
53676034
53677075
1042
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11841.p1
10.4
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
57189094
57232388
43295
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11919.p1
4.1
M
ASD
NA
Full-scale IQ, 84; non-verbal IQ, 77; verbal IQ, 104
57882313
57894620
12308
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11942.p1
10.3
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 44; verbal IQ, 62
57183027
57232388
49362
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12025.p1
6.7
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 96; verbal IQ, 69
53676034
53677075
1042
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12062.p1
9.9
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 126; verbal IQ, 120
57181443
57228720
47278
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12078.p1
9.2
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
57187577
57232388
44812
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12114.p1
16.7
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 85; verbal IQ, 123
54232997
54251250
18254
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
56799871
56812666
12796
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12223.p1
8.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 104; verbal IQ, 80
53676034
53677075
1042
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12243.p1
12
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
57856099
57857179
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12271.p1
10.5
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 41; verbal IQ, 40
57837344
57983125
145782
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12295.p1
15.6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 110; verbal IQ, 93
57187577
57232388
44812
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12313.p1
11.8
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
57187577
57232388
44812
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12335.p1
6.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
57856099
57857179
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12341.p1
13.8
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 114
57856099
57857179
1081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12372.p1
15.7
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 80
58062955
58067986
5032
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12454.p1
5.5
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 62
56519289
56534603
15315
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12456.p1
14.3
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
57183027
57234405
51379
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12628.p1
11.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 102; verbal IQ, 120
57187577
57232388
44812
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12634.p1
4.2
F
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 75; verbal IQ, 63
57855500
57857179
1680
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12648.p1
9.8
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
57856099
57857179
1081
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12648.p1
9.8
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
53730248
53736543
6296
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12780.p1
7.8
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 110; verbal IQ, 121
57856099
57857179
1081
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12865.p1
8.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
57183027
57232388
49362
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12923.p1
4.4
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 87
57856099
57857179
1081
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13051.p1
6.9
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 104
53676034
53677075
1042
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13187.p1
9.5
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 83; verbal IQ, 86
57175585
57234405
58821
GRCh38
Duplication
No
walker_13_ASD_discovery_cases-case3-0044-000
N/A
M
ASD
N/A
N/A
55047767
55120395
72629
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case8-14186-3050
N/A
M
ASD
N/A
N/A
53150074
53234837
84764
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case193
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
54227510
54254517
27008
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case194
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
57323576
58194373
870798
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-control110036017267_
N/A
N/A
Control
No previous psychiatric history
57272246
57700455
428210
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB326599_1007854356
N/A
N/A
Control
No previous psychiatric history
53772051
53960889
188839
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB326599_1007854356
N/A
N/A
Control
No previous psychiatric history
54226459
54653581
427123
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB857546_0067942612
N/A
N/A
Control
No previous psychiatric history
55562653
55817680
255028
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900535_900535
N/A
N/A
Control
No previous psychiatric history
52693788
52781354
87567
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1112
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
58055260
58094886
39627
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1812
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
58066486
58094886
28401
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control12922.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
54274840
54295272
20433
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C27500
Control
52535124
52563686
28563
Unknown
Deletion
sanders_11_ASD_discovery_controls-11006.s1
5.5
M
Control (matched sibling)
NA
NA
52693788
52790726
96939
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11030.s1
5.3
F
Control (matched sibling)
NA
NA
53730248
53736543
6296
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11037.s1
6.5
F
Control (matched sibling)
NA
NA
57189094
57232388
43295
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11059.s1
9.3
F
Control (matched sibling)
NA
NA
53730248
53742570
12323
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11108.s1
10.3
M
Control (matched sibling)
NA
NA
57189094
57220870
31777
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11198.s1
8.8
F
Control (matched sibling)
NA
NA
53676034
53677075
1042
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11365.s1
13.1
F
Control (matched sibling)
NA
NA
53676034
53677075
1042
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11410.s1
11.3
F
Control (matched sibling)
NA
NA
53676034
53677075
1042
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11425.s1
5.5
F
Control (matched sibling)
NA
NA
57189094
57232388
43295
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11459.s1
14.3
M
Control (matched sibling)
NA
NA
57773095
57789757
16663
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11489.s1
15.8
M
Control (matched sibling)
NA
NA
57189094
57232388
43295
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
53676034
53677075
1042
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
53676034
53680399
4366
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11677.s1
11.8
F
Control (matched sibling)
NA
NA
57189094
57228720
39627
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11718.s1
23.6
F
Control (matched sibling)
NA
NA
57902288
57917966
15679
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11766.s1
4.3
F
Control (matched sibling)
NA
NA
57187577
57232388
44812
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11909.s1
5.7
M
Control (matched sibling)
NA
NA
57856099
57857179
1081
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11942.s1
14.6
M
Control (matched sibling)
NA
NA
57187577
57228720
41144
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11979.s1
6.3
F
Control (matched sibling)
NA
NA
57183027
57234405
51379
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12006.s1
16.9
F
Control (matched sibling)
NA
NA
53676034
53677075
1042
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12233.s1
6.8
F
Control (matched sibling)
NA
NA
57187577
57232388
44812
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12271.s1
9.1
M
Control (matched sibling)
NA
NA
57837344
57983125
145782
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12295.s1
20
M
Control (matched sibling)
NA
NA
57187577
57234405
46829
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12314.s1
8.2
M
Control (matched sibling)
NA
NA
53730248
53736543
6296
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12578.s1
8.8
F
Control (matched sibling)
NA
NA
57855500
57857179
1680
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12626.s1
16.3
F
Control (matched sibling)
NA
NA
57856099
57857682
1584
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12648.s1
11.3
F
Control (matched sibling)
NA
NA
53730248
53736543
6296
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12681.s1
12.8
F
Control (matched sibling)
NA
NA
57856099
57857179
1081
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12865.s1
5.8
M
Control (matched sibling)
NA
NA
57181443
57234405
52963
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family13_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
58418483
59040914
622432
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family13_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
58418483
59040914
622432
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case59484
MLPA
Paternal
Unknown
Unknown
LRRC66
asadollahi_14_NDD_discovery_cases-case60324
MLPA
Maternal
Multiplex (triplets)
Possibly segregated
LINC02480,SPATA18,SGCB
asadollahi_14_NDD_discovery_cases-case60407
MLPA
Maternal
Multiplex (triplets)
Possibly segregated
LINC02480,SPATA18,SGCB
asadollahi_14_NDD_discovery_cases-case66928
MLPA
Maternal
Multiplex (triplets)
Possibly segregated
LINC02480,SPATA18,SGCB
berkel_10_ASD_discovery_cases-SK0217-003
Maternal
Simplex
Unknown
0 genes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300147
Unknown
RNU6-197P,MRPL22P1,RPL7AP31,PPAT,KIAA1211,AASDH
digregorio_17_DD/ID_discovery_cases-DECIPHER_300374
Paternal
RPL21P44,MORF4L2P1,RPL22P13,CHIC2,GSX2,PDGFRA
engchuan_15_ASD_discovery_cases-case13041_503
Unknown
RNU6-310P,SCFD2
engchuan_15_ASD_discovery_cases-case14027_520
Unknown
LNX1
engchuan_15_ASD_discovery_cases-case14185_3040
Unknown
LINC02283,PDGFRA
engchuan_15_ASD_discovery_cases-case14186_3050
Unknown
SCFD2
engchuan_15_ASD_discovery_cases-case14353_4670
Unknown
engchuan_15_ASD_discovery_cases-case14418_5270
Unknown
LNX1
engchuan_15_ASD_discovery_cases-case21035_1
Unknown
engchuan_15_ASD_discovery_cases-case2273_1
Unknown
RPS26P24,LINC02380
engchuan_15_ASD_discovery_cases-case4176_1
Unknown
KIAA1211
engchuan_15_ASD_discovery_cases-case5037_3
Unknown
engchuan_15_ASD_discovery_cases-case5391_3
Unknown
RN7SL424P,KDR
gai_11_ASD_replication_cases-AU060404
Inherited
KIAA1211
gazzellone_14_ASD_discovery_cases-case574-3
Unknown
Unknown
Unknown
SCFD2
gazzellone_14_ASD_discovery_cases-case666-3
Unknown
Unknown
Unknown
EXOC1
girirajan_13a_ASD_discovery_cases-11014.p1
Unknown
Simplex
Unknown
GLDCP1,RPL17P20,ARL9,THEGL,HOPX,SRP72
girirajan_13a_ASD_discovery_cases-13871.p1
Unknown
Simplex
Unknown
RNA5SP161,RNU6-197P,MRPL22P1,RPL7AP31,CEP135,KIAA1211,AASDH
girirajan_13a_ASD_discovery_cases-AU055005
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
PDGFRA
griswold_12_ASD_discovery_cases-case37036
qPCR
De novo
Simplex
Segregated
RN7SL822P,RNU6-746P,LRRC34P2,FCF1P8,RN7SKP30,RNU6-276P,RNU6-652P,RNA5SP161,RNU6-197P,SRD5A3,SRD5A3-AS1,NMU,EXOC1,TMEM165,CLOCK,EXOC1L,CEP135,KIAA1211,PDCL2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000963
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02480,RNU6-1252P,USP46-AS1,DANCR,MIR4449,SNORA26,RASL11B,RNU6-310P,LNX1-AS2,RPL21P44,MORF4L2P1,RPL22P13,LINC02260,RPL38P3,RNU6-410P,RN7SL424P,LRRC66,SPATA18,USP46,ERVMER34-1,LINC01618,FIP1L1,LNX1-AS1,CHIC2,GSX2,LINC02283,KIT,LINC02358,KDR,DCUN1D4,SGCB,SCFD2,PDGFRA,LNX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004215
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MRPL22P1,RPL7AP31,GLDCP1,RPL17P20,RN7SL492P,RN7SL357P,PPAT,PAICS,ARL9,THEGL,HOPX,SPINK2,KIAA1211,AASDH,SRP72
kanduri_15_ASD_discovery_cases-case3087
Paternal
Unknown
Unknown
IGFBP7-AS1 (non-coding RNA, exonic)
krumm_13_ASD_discovery_cases-case11014.p1
Maternal
Simplex
Segregated
GLDCP1,ARL9,THEGL,HOPX,SRP72
krumm_15_ASD_discovery_cases-case11014.p1
Illumina 1M
Maternal
Simplex
Segregated
GLDCP1,ARL9,THEGL,HOPX
krumm_15_ASD_discovery_cases-case12922.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
PDGFRA
krumm_15_ASD_discovery_cases-case13871.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
RNA5SP161,RNU6-197P,MRPL22P1,RPL7AP31,CEP135,KIAA1211,AASDH
leblond_12_ASD_replication_cases-Pintocase5237_3
Maternal
levy_11_ASD_discovery_cases-11014.p1
Maternal
Simplex
Segregated
GLDCP1,RPL17P20,ARL9,THEGL,HOPX,SRP72
lintas_17_ASD_discovery_cases-case15.2
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Not segregated (CNV only observed in 2/3 affected siblings)
lintas_17_ASD_discovery_cases-case15.3
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Not segregated (CNV only observed in 2/3 affected siblings)
maini_18_ASD/DD/ID_discovery_cases-case75
Maternal
Not simplex
Unknown
NMU,PDCL2
marshall_08_ASD_discovery_cases-NA0044-000
qPCR, qmPCR
Unknown
NA
NA
RNU6-410P,RN7SL424P,KDR
napoli_17_ASD_discovery_cases-case29
RT-PCR
Maternal
SCFD2
pinto_10_ASD_discovery_cases-case1184_3
Illumina550;Affy5.0
maternal
NA
NA
IGFBP7-AS1
pinto_10_ASD_discovery_cases-case5037_3
Agilent1M
maternal
NA
NA
pinto_10_ASD_discovery_cases-case5139_3
Agilent1M
paternal
NA
NA
IGFBP7-AS1
pinto_10_ASD_discovery_cases-case5391_3
Agilent1M
paternal
NA
NA
RN7SL424P,KDR
pinto_10_ASD_discovery_cases-case5413_3
Agilent1M
maternal
NA
NA
IGFBP7-AS1
prasad_12_ASD_discovery_cases-case128122
Unknown
Unknown
Unknown
LOC255130
prasad_12_ASD_discovery_cases-case131698
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case139366L
Unknown
Unknown
Unknown
KDR
prasad_12_ASD_discovery_cases-case60980L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case61028L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case83555L
Unknown
Unknown
Unknown
LOC255130
sajan_13_ACC/CBLH/PMG_discovery_cases-case1019-0
Not tested by qPCR
Unknown
Unknown
Unknown
IGFBP7-AS1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1297-0
qPCR
Paternal
Unknown
Unknown
RNU6-197P,MRPL22P1,RPL7AP31,GLDCP1,RPL17P20,RN7SL492P,RN7SL357P,RNU6-998P,UBE2CP3,PPAT,PAICS,ARL9,THEGL,HOPX,SPINK2,REST,NOA1,IGFBP7,KIAA1211,AASDH,SRP72,POLR2B,IGFBP7-AS1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1324-0
qPCR
Maternal
Unknown
Unknown
KIAA1211
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-097
Not tested by qPCR
Unknown
Unknown
Unknown
IGFBP7-AS1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-250
Not tested by qPCR
Unknown
Unknown
Unknown
IGFBP7-AS1
sanders_11_ASD_discovery_cases-11014.p1
Maternal
Simplex (quad-proband matched)
Segregated
GLDCP1,RPL17P20,ARL9,THEGL,HOPX,SRP72
sanders_11_ASD_discovery_cases-11030.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11048.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LNX1
sanders_11_ASD_discovery_cases-11059.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11071.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11108.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11108.p1
Paternal
Simplex (quad-proband matched)
Not segregated
IGFBP7-AS1
sanders_11_ASD_discovery_cases-11168.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LNX1
sanders_11_ASD_discovery_cases-11198.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LNX1
sanders_11_ASD_discovery_cases-11247.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IGFBP7-AS1
sanders_11_ASD_discovery_cases-11333.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HOPX
sanders_11_ASD_discovery_cases-11343.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11459.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11489.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IGFBP7-AS1
sanders_11_ASD_discovery_cases-11504.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11565.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
IGFBP7-AS1
sanders_11_ASD_discovery_cases-11604.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11781.p1
Maternal
Simplex (trio)
NA
IGFBP7-AS1
sanders_11_ASD_discovery_cases-11811.p1
Maternal
Simplex (trio)
NA
LNX1
sanders_11_ASD_discovery_cases-11835.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LNX1
sanders_11_ASD_discovery_cases-11841.p1
Maternal
Simplex (trio)
NA
IGFBP7-AS1
sanders_11_ASD_discovery_cases-11919.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11942.p1
Paternal
Simplex (quad-proband matched)
Not segregated
IGFBP7-AS1
sanders_11_ASD_discovery_cases-12025.p1
Paternal
Simplex (trio)
NA
LNX1
sanders_11_ASD_discovery_cases-12062.p1
Paternal
Simplex (quad-proband matched)
Not segregated
IGFBP7-AS1
sanders_11_ASD_discovery_cases-12078.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IGFBP7-AS1
sanders_11_ASD_discovery_cases-12114.p1
Maternal
Simplex (trio)
NA
PDGFRA
sanders_11_ASD_discovery_cases-12221.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
RN7SL357P,SPINK2
sanders_11_ASD_discovery_cases-12223.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LNX1
sanders_11_ASD_discovery_cases-12243.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12271.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12295.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IGFBP7-AS1
sanders_11_ASD_discovery_cases-12313.p1
Paternal
Simplex (quad-proband matched)
Not segregated
IGFBP7-AS1
sanders_11_ASD_discovery_cases-12335.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12341.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12372.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12454.p1
Unknown
Simplex (trio)
NA
ARL9,THEGL
sanders_11_ASD_discovery_cases-12456.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IGFBP7-AS1
sanders_11_ASD_discovery_cases-12628.p1
Unknown
Simplex (quad-proband matched)
Not segregated
IGFBP7-AS1
sanders_11_ASD_discovery_cases-12634.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12648.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12648.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12780.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12865.p1
Paternal
Simplex (quad-proband matched)
Not segregated
IGFBP7-AS1
sanders_11_ASD_discovery_cases-12923.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13051.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LNX1
sanders_11_ASD_discovery_cases-13187.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IGFBP7-AS1
walker_13_ASD_discovery_cases-case3-0044-000
Unknown
Simplex
Unknown
RN7SL424P,KDR
walker_13_ASD_discovery_cases-case8-14186-3050
Unknown
Simplex
Unknown
SCFD2
yin_16_ASD_discovery_cases-case193
Unknown
Unknown
Unknown
PDGFRA
yin_16_ASD_discovery_cases-case194
Unknown
Unknown
Unknown
RPS26P24,SRIP1,LINC02380
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036017267_
Unknown
RPS26P24,LINC02380
engchuan_15_ASD_discovery_controls-controlB326599_1007854356
Unknown
engchuan_15_ASD_discovery_controls-controlB326599_1007854356
Unknown
LINC02260,LINC02283,PDGFRA
engchuan_15_ASD_discovery_controls-controlB857546_0067942612
Unknown
RNU6-276P,NMU,PDCL2
engchuan_15_ASD_discovery_controls-controlHABC_900535_900535
Unknown
DANCR,MIR4449,SNORA26,ERVMER34-1
kanduri_15_ASD_discovery_controls-control_split1112
Unknown
IGFBP7-AS1 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split1812
Unknown
IGFBP7-AS1 (non-coding RNA, exonic)
krumm_15_ASD_discovery_controls-control12922.s1
1M-Duov3
Paternal
PDGFRA
nord_11_ASD_discovery_controls-04C27500
LRRC66
sanders_11_ASD_discovery_controls-11006.s1
Paternal
Simplex (quad)
NA
DANCR,MIR4449,SNORA26,ERVMER34-1,LINC01618
sanders_11_ASD_discovery_controls-11030.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11037.s1
Maternal
Simplex (quad)
NA
IGFBP7-AS1
sanders_11_ASD_discovery_controls-11059.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11108.s1
Paternal
Simplex (quad)
NA
IGFBP7-AS1
sanders_11_ASD_discovery_controls-11198.s1
Paternal
Simplex (quad)
NA
LNX1
sanders_11_ASD_discovery_controls-11365.s1
Maternal
Simplex (quad)
NA
LNX1
sanders_11_ASD_discovery_controls-11410.s1
Paternal
Simplex (quad)
NA
LNX1
sanders_11_ASD_discovery_controls-11425.s1
Paternal
Simplex (quad)
NA
IGFBP7-AS1
sanders_11_ASD_discovery_controls-11459.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11489.s1
Maternal
Simplex (quad)
NA
IGFBP7-AS1
sanders_11_ASD_discovery_controls-11505.s1
Paternal
Simplex (quad)
NA
LNX1
sanders_11_ASD_discovery_controls-11549.s1
Paternal
Simplex (quad)
NA
LNX1
sanders_11_ASD_discovery_controls-11677.s1
Maternal
Simplex (quad)
NA
IGFBP7-AS1
sanders_11_ASD_discovery_controls-11718.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11766.s1
Maternal
Simplex (quad)
NA
IGFBP7-AS1
sanders_11_ASD_discovery_controls-11909.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11942.s1
Paternal
Simplex (quad)
NA
IGFBP7-AS1
sanders_11_ASD_discovery_controls-11979.s1
Paternal
Simplex (quad)
NA
IGFBP7-AS1
sanders_11_ASD_discovery_controls-12006.s1
Maternal
Simplex (quad)
NA
LNX1
sanders_11_ASD_discovery_controls-12233.s1
Maternal
Simplex (quad)
NA
IGFBP7-AS1
sanders_11_ASD_discovery_controls-12271.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12295.s1
Maternal
Simplex (quad)
NA
IGFBP7-AS1
sanders_11_ASD_discovery_controls-12314.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12578.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12626.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12648.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12681.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12865.s1
Paternal
Simplex (quad)
NA
IGFBP7-AS1
stamouli_18_ASD/NDD_discovery_controls-family13_Twin_1
Unknown
N/A (both twins typically developing)
LINC02494,LINC02429
stamouli_18_ASD/NDD_discovery_controls-family13_Twin_2
Unknown
N/A (both twins typically developing)
LINC02494,LINC02429
No Animal Model Data Available