8p23.2CNV Type: Deletion-Duplication
Largest CNV size: 682668 bp
Statistics Box:
Number of Reports: 38
Number of Reports: 38
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion-Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
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.
Deletion
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al_shehhi_18_ASD/DD/ID_discovery_cases
Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group
34
94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect
Range, 1 month-24 years
61.76% Male
154623
1
0
1
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
3035604
0
1
1
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
21113
1
0
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
332596
1
0
1
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
1710000
0
1
1
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
1592757
0
1
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
817161
0
1
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
334738
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
956573
17
25
42
gabriele_17_DD/ID_discovery_cases
Individuals with deletions encompassing the YY1 gene identified within the DECIPHER database and an in-house database containing data from over 8,000 individuals with intellectual disability
13
Recurrent phenotypes of individuals with YY1 deletions included developmental delay, intellectual disability, intrauterine growth retardation, feeding problems, and dysmorphic features
N/A
N/A
36770
1
0
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
250313
8
3
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
13440
1
0
1
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
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
265402
3
0
3
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
263659
0
1
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
1260654
0
1
1
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
1336000
3
2
5
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
2201486
2
5
7
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
21844
3
0
3
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
2300000
0
5
5
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
291647
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
724405
2
2
4
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
242969
3
0
3
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
2197401
6
0
6
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
1135321
3
0
3
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
20635
1
0
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
2197402
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
99000
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
386205
2
0
2
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)
329000
2
1
3
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
71699
1
0
1
okur_21_ASD/EP/NDD_discovery_cases
Individuals with chromosome 8p rearrangements of invdupdel(8p), del(8p), and dup(8p) (selected from an original cohort of 97 individuals).
89
All patients presented with neurodevelopmental features (NDD); a subset of patients presented with autism spectrum disorder and/or epilepsy/seizures.
Range, 0.8-33.9 yrs.
47.19% Male
680721
1
1
2
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
235866
2
2
4
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
530314
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
352411
6
1
7
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
531967
1
1
2
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
245671
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
682668
46
23
69
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
2250000
0
3
3
stamouli_18_ASD/NDD_discovery_cases
Affected 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
Diagnoses based on DSM-5 criteria 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 an
N/A
N/A
18861
2
0
2
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
475460
0
4
4
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
881000
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
1090644
2
1
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
1126795
0
1
1
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
9226
0
1
1
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
0
0
0
0
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
260953
25
17
42
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
263659
0
0
0
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
1260654
NA
NA
NA
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
2166989
0
1
1
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
390399
1
1
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
291647
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
291647
0
1
1
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
157771
4
0
4
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
157772
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
600362
1
1
2
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
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
352411
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.
682668
39
11
50
wang_10_ASD_discovery_controls
Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
203
Controls
Mean, 32.5 8.06
71.9% Male
881000
1
0
1
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
1090644
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al_shehhi_18_ASD/DD/ID_discovery_cases
Ireland
aCGH
Platform N/A
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gabriele_17_DD/ID_discovery_cases
N/A
aCGH, array SNP
Agilent 44K, Agilent 60K, Agilent 400K, Affymetrix 250K NspI
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
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
kim_18_DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS
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)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
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
qPCR
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
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
okur_21_ASD/EP/NDD_discovery_cases
N/A
CMA
N/A
N/A
N/A
None
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)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
rosenfeld_10_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
shin_15_ASD/DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
qPCR
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
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
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
qPCR
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)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
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
al_shehhi_18_ASD/DD/ID_discovery_cases-case7
24 yrs.
F
ASD, DD, and epilepsy/seizures
ASD, speech and language delay, seizures
Learning disability
3896895
4051517
154623
GRCh38
Deletion
Yes
annunziata_21_ASD_discovery_cases-caseIB240
NA
F
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
3210049
6245652
3035604
GRCh38
Duplication
Yes
bacchelli_20_ASD_discovery_cases-caseAB72
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
4043290
4064402
21113
GRCh38
Deletion
No
brandler_18_ASD_discovery_cases-caseMT_70.3
N/A
M
ASD
Case from REACH cohort
4860289
5192885
332597
GRCh38
Deletion
Yes
chen_17_ASD_discovery_cases-caseU-1130
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 9 (past score 23); Qualitative abnormalities in verbal and nonverbal communication, current score 10 (past score 15); Qualitative abnormalities in nonverbal communication, current score 4 (past score 7); Restricted, repetitive, and stereotyped patterns of behaviour, current score 3 (past score 7); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 102; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 25. Epilepsy: no history of epilepsy.
Performance IQ 75, Verbal IQ 49, Full-scale IQ 61
2475295
4032490
1557196
GRCh38
Duplication
Yes
costa_21_ASD_discovery_cases-caseP135
NA
M
ASD
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: MRI and ophthalmologic alterations.
3645118
5237874
1592757
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case382
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
2658607
3475767
817161
GRCh38
Duplication
No
davis_09_ASD_discovery_cases-AU1105303
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
2298560
2633298
334738
Unknown
Duplication
No
engchuan_15_ASD_discovery_cases-case14029_560
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4464932
4505204
40273
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14054_930
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5708922
5978149
269228
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14107_1890
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3763413
3803043
39631
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14256_3790
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6158620
6198683
40064
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14366_980
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16041_1571054001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18122_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
652904
809178
156275
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1966_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
652904
809178
156275
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20043_1258001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3840667
3946872
106206
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20137_1254001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21039_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5371374
5433638
62265
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2197_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4034495
4175664
141170
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2200_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3216_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
652904
809178
156275
GRCh38
Duplication
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)
5840922
5999832
158911
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3475_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5769467
5805516
36050
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3538_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6188629
6257838
69210
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3570_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6048761
6124282
75522
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3611_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2709647
3414684
705038
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4202_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6244517
6298137
53621
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4239_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4324_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4377_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5060828
5175902
115075
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4520_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4531_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4535_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
652904
809178
156275
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5125_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
501806
527444
25639
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5225_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5253_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6205972
6342924
136953
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5271_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4428102
4464932
36831
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5354_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5429_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
495177
559250
64074
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6010_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3474768
3651455
176688
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6010_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2605460
3445949
840490
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6031_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5431433
5479075
47643
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6232_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8404_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
497494
809178
311685
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8433_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8452_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
652904
809178
156275
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8587_210
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4752823
4794680
41858
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8743_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
652904
809178
156275
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case9610_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
652904
809178
156275
GRCh38
Duplication
No
gabriele_17_DD/ID_discovery_cases-case263711
N/A
N/A
Intellectual disability
Intrauterine growth retardation, hypotonia, atrial septal defect, ventricular septal defect, hypoplastic aortic arch, duplex kidney, feeding problems, dysmorphic features, recurrent infections
Intellectual disability
3765526
3802295
36770
GRCh38
Deletion
gai_11_ASD_discovery_cases-AU1025301
Autism
3931576
4066813
135238
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1031301
Autism
2775515
3023261
247747
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1031303
Autism
2774625
3024937
250313
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1272301
Autism
4290826
4354074
63249
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1272302
Autism
4289625
4354074
64450
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1364301
Autism
6043046
6107334
64289
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1429302
Autism
4460541
4472656
12116
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1429303
Autism
4460541
4472656
12116
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1521302
Autism
5478536
5522257
43722
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1631301
Autism
5553852
5583199
29348
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1644303
Autism
3732042
3781008
48967
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU023005
Autism
3487434
3500873
13440
Unknown
Deletion
No
gannon_11_ASD/DD_discovery_cases-patientI
ASD and/or DD
Dysmorphic features: unknown
IQ unknown
NA
NA
NA
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case574-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
5200261
5465663
265403
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case578-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
5864667
5926709
62043
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case683-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
5685943
5751312
65370
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si16
11
M
Autism
ADOS score: 10. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 108; Non-verbal IQ, 100.
557302
809178
251877
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_cases-case33289
Developmental delay
NA
NA
3715235
4975889
1260655
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-11225.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
4145070
4505070
360001
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-12775.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
4745070
6075070
1330001
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-13503.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
3265071
4055070
790000
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-14152.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
4915070
5265070
350001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-14152.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
3175071
3635070
460000
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000476
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2475295
3082171
606877
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000847
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2641113
3269970
628858
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002530
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2605460
3989878
1384419
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005070
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2950225
4051517
1101293
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005191
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3036719
3269970
233252
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005365
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3853288
6054774
2201487
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005416
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3853288
4523856
670569
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1942
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.
4335682
4357525
21844
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case2991
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.
5495902
5503800
7899
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case2994
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.
2930476
2946196
15721
Unknown
Deletion
No
kim_18_DD/ID_discovery_cases-case24
9 yrs. 3 mos.
F
Developmental delay/intellectual disability and epilepsy
Absent speech, dysmorphic features, cleft palate, epilepsy, failure to thrive, microcephaly
Severe developmental delay/intellectual disability
3827778
6078149
2250372
GRCh38
Duplication
No
kim_18_DD/ID_discovery_cases-case26
1 yr. 8 mos.
F
Developmental delay and epilepsy
Dysmorphic features, epilepsy, failure to thrive, hypotonia, vesicoureteral reflux
Severe developmental delay
3831187
6093089
2261903
GRCh38
Duplication
No
kim_18_DD/ID_discovery_cases-case29
6.3 yrs.
F
Developmental delay
Dysmorphic features, hypotonia
Developmental delay
3827778
6078149
2250372
GRCh38
Duplication
No
kim_18_DD/ID_discovery_cases-case6
9 yrs. 11 mos.
M
Developmental delay/intellectual disability
Dysmorphic features
Developmental delay/intellectual disability
3827778
6078149
2250372
GRCh38
Duplication
No
kim_18_DD/ID_discovery_cases-case8
8 yrs.
F
Developmental delay/intellectual disability and autism
Autism, absent speech, dysmorphic features, failure to thrive, microcephaly, tetralogy of Fallot
Developmental delay/intellectual disability
3827778
6078149
2250372
GRCh38
Duplication
No
krumm_13_ASD_discovery_cases-case11336.p1
N/A
M
ASD
ASD proband from SSC quad family 11336. SRS score of 81.
Full-scale IQ (FSIQ) score of 123.
2938584
3230231
291648
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11336.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2938584
3230231
291648
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12661.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3284143
3369370
85228
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13503.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3307694
4032099
724406
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14152.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3181109
3616797
435689
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0531
21 yrs.
M
ASD, ID
Developmental milestones: motor delay. Behavioral/psychiatric evaluation: sensory hypersensitivity, catatonia. Family history: negative.
Severe intellectual disability
4410048
4458635
48588
GRCh38
Deletion
N/A
kushima_18_ASD_discovery_cases-caseASD0580
14 yrs.
F
ASD
Developmental milestones: motor delay. Motor and musculoskeletal evaluation: motor coordination deficits. Behavioral/psychiatric evaluation: sensory hypersensitivity. Family history: positive for MDD and tics.
IQ > 70
3914469
4157437
242969
GRCh38
Deletion
N/A
kushima_18_ASD_discovery_cases-caseASD0741
21 yrs.
F
ASD
No additional clinical information reported for this individual. Family history: unknown.
3876145
3961401
85257
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0369
57 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
3877806
3959547
81742
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0388
43 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
3877806
3959547
81742
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0494
38 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 30 years of age (core symptoms include auditory hallucinations, irritability, agitation), mood symptoms. Family history: positive.
IQ > 70
3873130
3959547
86418
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1164
37 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 28 years of age (core symptoms include delusions, hallucinations, thought disorders). Family history: positive for MDD.
IQ > 70
2724493
4921893
2197401
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2360
65 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
3876145
3961401
85257
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2363
40 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
3876145
3967152
91008
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0531
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
4410047
4458635
48589
GRCh38
Deletion
Yes
kushima_22_ASD_discovery_cases-caseASD0580
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
3914468
4157437
242970
GRCh38
Deletion
Yes
kushima_22_ASD_discovery_cases-caseASD1146
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
4059010
5194330
1135321
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0828
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
3219684
3240318
20635
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1164
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
2724492
4921893
2197402
GRCh38
Deletion
Yes
lesca_12_EP_discovery_cases-caseDZ29
NA
M
Epilepsy
Phenotype: LKS-woESES. Seizure Characteristics: ND. Autistic features: ND. ADHD features: ND. Other features: None.
Initial cognitive development: ND. Cognitive regression: ND.
4431962
4531187
99226
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11225.p1
NA
M
ASD
NA
NA
4120360
4506564
386205
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11676.p1
NA
F
ASD
NA
NA
4007167
4184026
176860
GRCh38
Deletion
No
morrow_08_ASD_discovery_cases-case3605
NA
ASD
NA
NA
5758000
5865000
106600
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case3605
NA
ASD
NA
NA
4640000
4969000
329000
Unknown
Duplication
No
morrow_08_ASD_discovery_cases-case9201
NA
ASD
NA
NA
3758000
3796000
38800
Unknown
Deletion
No
nord_11_ASD_discovery_cases-310-1
ASD
3202309
3274007
71699
Unknown
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_5-CSMD1-3'
17 yrs.
M
NDD
Neurobehavioral profile: Short attention span/ADD/ADHD/Hyperactivity. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Other brain imaging abnormality. Visual abnormalities: Refractive error. Genitourinary abnormalities: Unspecified genitourinary abnormalities. Growth and Endocrine abnormalities: Obesity/Overweight. Frequent infections: Otitis media.
2847526
3080418
232893
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedup(8p)_3-CSMD1-3'
17.3 yrs.
M
ASD
Neurobehavioral profile: Autism, Short attention span/ADD/ADHD/Hyperactivity, Anxiety. Sleep problems: Unspecified sleep problems. Visual abnormalities: Strabismus. Gastrointestinal abnormalities: Constipation. Dental abnormalities: Small teeth.
2475294
3156014
680721
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case2234_1
NA
M
Autism
Language delay, no dysmorphic features, significant hypotonia but walked at 18 m, normal neurological exam, no epilepsy
NA
3773951
3780096
6146
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case5125_3
NA
M
ASD
NA
NA
501806
527444
25639
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5225_3
NA
M
Autism
NA
NA
657469
809178
151710
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5429_3
NA
M
ASD
NA
NA
495177
559250
64074
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case99HI1083A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU060303; NDAR ID NDAR_INVFG744LPG)
3223729
3754042
530314
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case100679L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
2710891
2723489
12599
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case154264L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
5332491
5684901
352411
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case165455L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
4273288
4376258
102971
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60662-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
2775210
3023986
248777
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case63586-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
3607909
3635846
27938
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case65891
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
3975000
4026000
51001
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case90651
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
3987781
4047083
59303
Unknown
Deletion
No
rosenfeld_10_ASD_discovery_cases-case13747
NA
NA
ASD
NA
NA
4253907
4725426
471519
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case9019
NA
NA
ASD
NA
NA
2376624
2908591
531967
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-194
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: yes (onset at 3 mos).
Developmental delay: yes. Intellectual disability: N/A.
648348
809178
160831
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11017.p1
4.3
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
3032370
3033287
918
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
4861126
4899801
38676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11051.p1
12.2
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 114
657469
809178
151710
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11053.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 77
652904
809178
156275
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
6320781
6342924
22144
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11160.p1
6.9
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 119; verbal IQ, 99
6298137
6314142
16006
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11178.p1
9.3
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 119; verbal IQ, 103
2681751
2695189
13439
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11196.p1
12.1
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 117; verbal IQ, 106
3563293
3570327
7035
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
4618446
4629039
10594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11225.p1
11.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 98; verbal IQ 120
4121461
4509144
387684
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11267.p1
13.2
F
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79
3890377
3920513
30137
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
5654551
5656129
1579
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
2605460
3280124
674665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11359.p1
5.5
M
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 81
4706555
4804012
97458
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11372.p1
5.7
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 99
648348
809178
160831
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11435.p1
17.7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 63; verbal IQ, 70
4618446
4630524
12079
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11437.p1
16.6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
6298137
6350617
52481
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11468.p1
10.7
M
Aspergers
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
4618446
4629039
10594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11473.p1
11.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
652904
809178
156275
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11479.p1
6
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
5826982
5874478
47497
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11485.p1
5.6
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
6244517
6258550
14034
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11538.p1
5.8
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 85
3257643
3270577
12935
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11558.p1
7.4
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 89
5391478
5449420
57943
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
648348
809178
160831
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11598.p1
5.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
4151294
4161940
10647
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11599.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 99
652904
809178
156275
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11610.p1
7.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 138; verbal IQ, 99
657469
809178
151710
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11676.p1
7.1
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
4007966
4184177
176212
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11691.p1
14.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
4618446
4627726
9281
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
6244517
6351904
107388
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11710.p1
6.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
2683216
2695189
11974
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11718.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 108
2683216
2695189
11974
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11731.p1
9.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 60
2781660
2798476
16817
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11800.p1
13.3
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
3951121
3964647
13527
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11808.p1
8.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
2683216
2695189
11974
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11825.p1
6.6
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
5790071
5888330
98260
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
648348
809178
160831
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11841.p1
10.4
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
2732385
2732572
188
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
5213748
5215772
2025
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11888.p1
4
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 75
5213748
5320289
106542
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11990.p1
11.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 81; verbal IQ, 78
3586486
3592795
6310
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12028.p1
9.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 80
648348
809178
160831
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12057.p1
12.1
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 29
4467762
4500003
32242
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12099.p1
8
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 55; verbal IQ, 63
648348
809178
160831
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12113.p1
4.1
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
657469
809178
151710
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12149.p1
5.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
3276954
3292508
15555
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12189.p1
8.8
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
524999
527444
2446
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12189.p1
8.8
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
2290290
2324501
34211
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-12198.p1
8.1
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
657469
809178
151710
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12201.p1
13.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
4171991
4185993
14003
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
2641113
2802019
160907
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12392.p1
7
M
ASD
NA
Full-scale IQ, 103; non-verbal IQ, 102; verbal IQ, 105
6066144
6085459
19316
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12418.p1
13.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
4079669
4199873
120205
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
648348
809178
160831
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12536.p1
5.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81
657469
809178
151710
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12543.p1
8.9
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 67
479472
523328
43857
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12607.p1
5.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
3586486
3592795
6310
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12621.p1
5.8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 96
5826982
5867515
40534
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
5334673
5351228
16556
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
3280124
3369397
89274
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12701.p1
6.7
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
4154757
4156406
1650
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
5391478
5445567
54090
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12782.p1
13.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 76; verbal IQ, 77
5391478
5433638
42161
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12843.p1
6.2
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
4009991
4016999
7009
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12864.p1
5.8
F
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 65; verbal IQ, 81
5102528
5132667
30140
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12908.p1
5
F
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 81; verbal IQ, 70
3927311
3934959
7649
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12977.p1
8.2
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 95; verbal IQ, 107
524999
527444
2446
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13038.p1
8.8
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 94; verbal IQ, 100
2683216
2695189
11974
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13077.p1
11.4
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
4352618
4357748
5131
GRCh38
Deletion
No
shin_15_ASD/DD/ID_discovery_cases-case20
8 yrs.
M
Developmental delay/intellectual disability
Developmental delay, intellectual disability, pes planovalgus
Intellectual disability
3827778
6078149
2250372
GRCh38
Duplication
No
shin_15_ASD/DD/ID_discovery_cases-case21
4 yrs.
F
ASD and developmental delay
ASD, developmental delay
3827778
6078149
2250372
GRCh38
Duplication
No
shin_15_ASD/DD/ID_discovery_cases-case22
1 yr.
M
Developmental delay
Developmental delay
3827778
6078149
2250372
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family11_Twin_1
N/A
M
ADHD
Case is from a monozygotic twin pair from the Concordant NDD diagnostic group (MZ male pair concordant for ADHD and discordant for tic disorder)
3205521
3219437
13917
GRCh38
Deletion
Yes
stamouli_18_ASD/NDD_discovery_cases-family11_Twin_2
N/A
M
ADHD
Case is from a monozygotic twin pair from the Concordant NDD diagnostic group (MZ male pair concordant for ADHD and discordant for tic disorder)
3205521
3224381
18861
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR054-B12-HI0189
NA
ASD
NA
NA
5037030
5104380
67351
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR054-C1-HI0191
NA
ASD
NA
NA
4628920
5104380
475461
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR063-C5-HI1372
NA
ASD
NA
NA
4064600
4065170
571
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR067-A8-HI2741
NA
ASD
NA
NA
4064600
4064780
181
GRCh38
Duplication
Yes
yin_16_ASD_discovery_cases-case295
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
2941847
4032490
1090644
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case296
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
4444474
4464712
20239
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case297
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
4665961
4689045
23085
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control10465
N/A
M
Control
Control
2605460
3732254
1126795
GRCh38
Duplication
No
brandler_18_ASD_discovery_controls-controlSJD_66.4
N/A
F
Control
Control from REACH cohort
2823079
2832305
9227
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_controls-control110036017028_
N/A
N/A
Control
No previous psychiatric history
517861
559250
41390
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036019495_
N/A
N/A
Control
No previous psychiatric history
491745
642964
151220
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036022143_
N/A
N/A
Control
No previous psychiatric history
6085124
6188629
103506
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036023364_
N/A
N/A
Control
No previous psychiatric history
648348
809178
160831
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036024867_
N/A
N/A
Control
No previous psychiatric history
648348
809178
160831
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
N/A
N/A
Control
No previous psychiatric history
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB338193_1007852606
N/A
N/A
Control
No previous psychiatric history
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB340331_1007844528
N/A
N/A
Control
No previous psychiatric history
5609455
5747565
138111
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB386236_1007853834
N/A
N/A
Control
No previous psychiatric history
5826982
5862449
35468
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB427661_1007840422
N/A
N/A
Control
No previous psychiatric history
6215812
6337295
121484
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB445697_1007853831
N/A
N/A
Control
No previous psychiatric history
4883429
4967055
83627
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB468914_1007854173
N/A
N/A
Control
No previous psychiatric history
4060596
4175100
114505
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB519248_1007840750
N/A
N/A
Control
No previous psychiatric history
652904
809178
156275
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB666406_1007854768
N/A
N/A
Control
No previous psychiatric history
4445694
4509144
63451
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB703785_1007873472
N/A
N/A
Control
No previous psychiatric history
652904
809178
156275
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB749532_1007845879
N/A
N/A
Control
No previous psychiatric history
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB764926_1007854164
N/A
N/A
Control
No previous psychiatric history
5124795
5158206
33412
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB834607_0067942618
N/A
N/A
Control
No previous psychiatric history
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB836181_0057060970
N/A
N/A
Control
No previous psychiatric history
2605460
2694029
88570
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB856688_1007852525
N/A
N/A
Control
No previous psychiatric history
6215812
6312259
96448
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB889239_1007844977
N/A
N/A
Control
No previous psychiatric history
5960890
6031183
70294
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB916627_1007870356
N/A
N/A
Control
No previous psychiatric history
4517880
4565404
47525
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB957333_1007873686
N/A
N/A
Control
No previous psychiatric history
652904
809178
156275
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB963921_1007872666
N/A
N/A
Control
No previous psychiatric history
5962752
6124334
161583
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB994805_1007853994
N/A
N/A
Control
No previous psychiatric history
3525460
3570327
44868
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900318_900318
N/A
N/A
Control
No previous psychiatric history
5391478
5443067
51590
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900378_900378
N/A
N/A
Control
No previous psychiatric history
648348
809178
160831
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900452_900452
N/A
N/A
Control
No previous psychiatric history
657469
809178
151710
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900467_900467
N/A
N/A
Control
No previous psychiatric history
5888168
5941267
53100
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900543_900543
N/A
N/A
Control
No previous psychiatric history
648348
809178
160831
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900573_900573
N/A
N/A
Control
No previous psychiatric history
6259731
6324586
64856
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900828_900828
N/A
N/A
Control
No previous psychiatric history
5708922
5969875
260954
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900997_900997
N/A
N/A
Control
No previous psychiatric history
4039103
4139767
100665
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901077_901077
N/A
N/A
Control
No previous psychiatric history
5637116
5677979
40864
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901129_901129
N/A
N/A
Control
No previous psychiatric history
5467459
5705760
238302
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901159_901159
N/A
N/A
Control
No previous psychiatric history
3059952
3101387
41436
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901203_901203
N/A
N/A
Control
No previous psychiatric history
648348
809178
160831
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901238_901238
N/A
N/A
Control
No previous psychiatric history
648348
809178
160831
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902452_902452
N/A
N/A
Control
No previous psychiatric history
5884769
5941267
56499
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902554_902554
N/A
N/A
Control
No previous psychiatric history
4168983
4390258
221276
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902591_902591
N/A
N/A
Control
No previous psychiatric history
4520190
4558350
38161
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902624_902624
N/A
N/A
Control
No previous psychiatric history
6173047
6273748
100702
GRCh38
Deletion
No
guo_17_ASD_discovery_controls-controlPY2614
N/A
N/A
Control
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
4042085
6209074
2166990
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_controls-control_split2119
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
3587957
3976837
388881
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split902
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
3786543
4176941
390399
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11336.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11336. SRS score of 45.
2938584
3230231
291648
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11336.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
2938584
3230231
291648
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0643
29 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
3877806
3959547
81742
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON0852
46 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
3876145
3961401
85257
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON1082
42 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
3858560
4016330
157771
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON1391
62 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
3876145
3961401
85257
GRCh38
Deletion
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1082
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
3858559
4016330
157772
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11666.s1
NA
M
Control
NA
NA
4637468
5237829
600362
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11676.s1
NA
F
Control
NA
NA
4007167
4184026
176860
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11009.s1
7.6
M
Control (matched sibling)
NA
NA
4027856
4073389
45534
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
4793229
4794926
1698
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11047.s1
12.9
F
Control (matched sibling)
NA
NA
657469
809178
151710
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11053.s1
13.3
M
Control (matched sibling)
NA
NA
652904
809178
156275
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11077.s1
14.8
M
Control (matched sibling)
NA
NA
6175210
6206785
31576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11086.s1
9.3
M
Control (matched sibling)
NA
NA
6244517
6258550
14034
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11160.s1
11.5
M
Control (matched sibling)
NA
NA
6298137
6314142
16006
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11168.s1
7.9
M
Control (matched sibling)
NA
NA
2996931
3000143
3213
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11245.s1
14.1
M
Control (matched sibling)
NA
NA
4703232
4715797
12566
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11267.s1
10.3
M
Control (matched sibling)
NA
NA
3890377
3920532
30156
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11275.s1
15.8
F
Control (matched sibling)
NA
NA
3503949
3517658
13710
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11330.s1
11.8
F
Control (matched sibling)
NA
NA
5654551
5656129
1579
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11336.s1
12.9
F
Control (matched sibling)
NA
NA
2605460
3280124
674665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11372.s1
4
M
Control (matched sibling)
NA
NA
657469
809178
151710
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11437.s1
18.4
M
Control (matched sibling)
NA
NA
6298137
6350568
52432
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11458.s1
14.5
M
Control (matched sibling)
NA
NA
3577317
3586486
9170
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11538.s1
9.2
M
Control (matched sibling)
NA
NA
3257643
3270577
12935
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11599.s1
4.3
M
Control (matched sibling)
NA
NA
652904
809178
156275
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11666.s1
9.1
M
Control (matched sibling)
NA
NA
4637289
5235448
598160
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11667.s1
8.3
M
Control (matched sibling)
NA
NA
5816195
5835998
19804
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11673.s1
7.9
M
Control (matched sibling)
NA
NA
648348
809178
160831
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11676.s1
4.3
F
Control (matched sibling)
NA
NA
4007966
4185224
177259
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11723.s1
4.5
F
Control (matched sibling)
NA
NA
2732385
2732572
188
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11731.s1
5.3
F
Control (matched sibling)
NA
NA
2781660
2798476
16817
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11818.s1
14.3
F
Control (matched sibling)
NA
NA
4653148
4656554
3407
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11888.s1
9.6
M
Control (matched sibling)
NA
NA
5213748
5319295
105548
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
6339661
6342924
3264
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
4861126
4898468
37343
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12030.s1
8.2
F
Control (matched sibling)
NA
NA
2683216
2695189
11974
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12052.s1
5.4
F
Control (matched sibling)
NA
NA
5060828
5067971
7144
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12113.s1
6.5
M
Control (matched sibling)
NA
NA
648348
809178
160831
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12201.s1
12.1
M
Control (matched sibling)
NA
NA
4171991
4185993
14003
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12321.s1
9.8
F
Control (matched sibling)
NA
NA
5391478
5443067
51590
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12418.s1
11.7
M
Control (matched sibling)
NA
NA
4079669
4199873
120205
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12621.s1
8.8
M
Control (matched sibling)
NA
NA
5826982
5867515
40534
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12624.s1
4.1
F
Control (matched sibling)
NA
NA
4363185
4407154
43970
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12651.s1
15.8
M
Control (matched sibling)
NA
NA
2683216
2691878
8663
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12661.s1
11.2
F
Control (matched sibling)
NA
NA
5334673
5356520
21848
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12701.s1
10.4
M
Control (matched sibling)
NA
NA
4154757
4156406
1650
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12780.s1
5.9
M
Control (matched sibling)
NA
NA
5950458
6050799
100342
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12782.s1
12.9
F
Control (matched sibling)
NA
NA
5391478
5433638
42161
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12864.s1
12.9
F
Control (matched sibling)
NA
NA
5102528
5132667
30140
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12879.s1
6.3
M
Control (matched sibling)
NA
NA
3314389
3338331
23943
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
524999
527444
2446
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12962.s1
8.3
F
Control (matched sibling)
NA
NA
657469
809178
151710
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
3706124
3709093
2970
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12977.s1
5.3
M
Control (matched sibling)
NA
NA
524999
527444
2446
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12977.s1
5.3
M
Control (matched sibling)
NA
NA
6205972
6244517
38546
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13070.s1
11.6
M
Control (matched sibling)
NA
NA
5144956
5158206
13251
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13226.s1
10.3
F
Control (matched sibling)
NA
NA
3094443
3105397
10955
GRCh38
Duplication
No
wang_10_ASD_discovery_controls-Aut38
25
F
Control
NA
NA
4160611
5041493
880883
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al_shehhi_18_ASD/DD/ID_discovery_cases-case7
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Paternal
CSMD1
annunziata_21_ASD_discovery_cases-caseIB240
qPCR, FISH
Maternal
CSMD1,PAICSP4,RPL23AP54,RNA5SP251,RN7SL318P,RN7SKP159
bacchelli_20_ASD_discovery_cases-caseAB72
Paternal
Simplex
CSMD1
brandler_18_ASD_discovery_cases-caseMT_70.3
SNP VCF
De novo
RN7SL318P,CSMD1
chen_17_ASD_discovery_cases-caseU-1130
RT-qPCR
Maternal
RNA5SP251,CSMD1
costa_21_ASD_discovery_cases-caseP135
Unknown
CSMD1,PAICSP4,RNA5SP251,RN7SL318P
cucinotta_23_ASD_discovery_cases-case382
Unknown
CSMD1
davis_09_ASD_discovery_cases-AU1105303
Unknown
Unknown
Unknown
0 genes
engchuan_15_ASD_discovery_cases-case14029_560
Unknown
CSMD1
engchuan_15_ASD_discovery_cases-case14054_930
Unknown
RN7SKP159
engchuan_15_ASD_discovery_cases-case14107_1890
Unknown
CSMD1
engchuan_15_ASD_discovery_cases-case14256_3790
Unknown
engchuan_15_ASD_discovery_cases-case14366_980
Unknown
engchuan_15_ASD_discovery_cases-case16041_1571054001
Unknown
engchuan_15_ASD_discovery_cases-case18122_301
Unknown
engchuan_15_ASD_discovery_cases-case1966_301
Unknown
engchuan_15_ASD_discovery_cases-case20043_1258001
Unknown
CSMD1
engchuan_15_ASD_discovery_cases-case20137_1254001
Unknown
engchuan_15_ASD_discovery_cases-case21039_1
Unknown
engchuan_15_ASD_discovery_cases-case2197_1
Unknown
CSMD1
engchuan_15_ASD_discovery_cases-case2200_1
Unknown
engchuan_15_ASD_discovery_cases-case3216_3
Unknown
engchuan_15_ASD_discovery_cases-case3451_3
Unknown
RN7SKP159
engchuan_15_ASD_discovery_cases-case3475_3
Unknown
engchuan_15_ASD_discovery_cases-case3538_3
Unknown
engchuan_15_ASD_discovery_cases-case3570_4
Unknown
engchuan_15_ASD_discovery_cases-case3611_3
Unknown
CSMD1
engchuan_15_ASD_discovery_cases-case4202_1
Unknown
engchuan_15_ASD_discovery_cases-case4239_1
Unknown
engchuan_15_ASD_discovery_cases-case4324_1
Unknown
engchuan_15_ASD_discovery_cases-case4377_1
Unknown
RN7SL318P
engchuan_15_ASD_discovery_cases-case4520_1
Unknown
engchuan_15_ASD_discovery_cases-case4531_1
Unknown
engchuan_15_ASD_discovery_cases-case4535_1
Unknown
engchuan_15_ASD_discovery_cases-case5125_3
Unknown
engchuan_15_ASD_discovery_cases-case5225_3
Unknown
engchuan_15_ASD_discovery_cases-case5253_3
Unknown
engchuan_15_ASD_discovery_cases-case5271_3
Unknown
CSMD1
engchuan_15_ASD_discovery_cases-case5354_3
Unknown
engchuan_15_ASD_discovery_cases-case5429_3
Unknown
engchuan_15_ASD_discovery_cases-case6010_4
Unknown
CSMD1
engchuan_15_ASD_discovery_cases-case6010_4
Unknown
CSMD1
engchuan_15_ASD_discovery_cases-case6031_3
Unknown
RPL23AP54
engchuan_15_ASD_discovery_cases-case6232_6
Unknown
engchuan_15_ASD_discovery_cases-case8404_201
Unknown
engchuan_15_ASD_discovery_cases-case8433_202
Unknown
engchuan_15_ASD_discovery_cases-case8452_201
Unknown
engchuan_15_ASD_discovery_cases-case8587_210
Unknown
PAICSP4,CSMD1
engchuan_15_ASD_discovery_cases-case8743_202
Unknown
engchuan_15_ASD_discovery_cases-case9610_201
Unknown
gabriele_17_DD/ID_discovery_cases-case263711
Unknown
Unknown
CSMD1
gai_11_ASD_discovery_cases-AU1025301
Inherited
CSMD1 (intronic)
gai_11_ASD_discovery_cases-AU1031301
Inherited
CSMD1
gai_11_ASD_discovery_cases-AU1031303
Inherited
CSMD1
gai_11_ASD_discovery_cases-AU1272301
Inherited
CSMD1 (intronic)
gai_11_ASD_discovery_cases-AU1272302
Inherited
CSMD1 (intronic)
gai_11_ASD_discovery_cases-AU1364301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1429302
Inherited
CSMD1 (intronic)
gai_11_ASD_discovery_cases-AU1429303
Inherited
CSMD1 (intronic)
gai_11_ASD_discovery_cases-AU1521302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1631301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1644303
Inherited
CSMD1 (intronic)
gai_11_ASD_replication_cases-AU023005
Inherited
CSMD1 (intronic)
gannon_11_ASD/DD_discovery_cases-patientI
Unknown
Unknown
NA
gazzellone_14_ASD_discovery_cases-case574-3
Unknown
Unknown
Unknown
gazzellone_14_ASD_discovery_cases-case578-3
Unknown
Unknown
Unknown
RN7SKP159
gazzellone_14_ASD_discovery_cases-case683-3
Unknown
Unknown
Unknown
girirajan_11_ASD_discovery_cases-Si16
Unknown
Simplex
girirajan_12_ASD/DD/ID_discovery_cases-case33289
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
PAICSP4,CSMD1
girirajan_13a_ASD_discovery_cases-11225.p1
Unknown
Simplex
Unknown
CSMD1
girirajan_13a_ASD_discovery_cases-12775.p1
Unknown
Simplex
Unknown
PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,CSMD1
girirajan_13a_ASD_discovery_cases-13503.p1
Unknown
Simplex
Unknown
RNA5SP251,CSMD1
girirajan_13a_ASD_discovery_cases-14152.p1
Unknown
Simplex
Unknown
RN7SL318P,CSMD1
girirajan_13a_ASD_discovery_cases-14152.p1
Unknown
Simplex
Unknown
CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000476
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000847
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002530
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP251,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005070
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP251,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005191
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005365
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005416
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CSMD1
kanduri_15_ASD_discovery_cases-case1942
Maternal
Unknown
Unknown
CSMD1 (intronic)
kanduri_15_ASD_discovery_cases-case2991
De novo
Unknown
Unknown
Intergenic CNV: nearest genes, CSMD1(dist=643574),LOC100287015(dist=757277)
kanduri_15_ASD_discovery_cases-case2994
Maternal
Unknown
Unknown
CSMD1
kim_18_DD/ID_discovery_cases-case24
Maternal
PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,CSMD1
kim_18_DD/ID_discovery_cases-case26
Paternal
PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,CSMD1
kim_18_DD/ID_discovery_cases-case29
Unknown
PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,CSMD1
kim_18_DD/ID_discovery_cases-case6
De novo
PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,CSMD1
kim_18_DD/ID_discovery_cases-case8
Unknown
PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,CSMD1
krumm_13_ASD_discovery_cases-case11336.p1
Paternal
Simplex
Not segregated
CSMD1
krumm_15_ASD_discovery_cases-case11336.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CSMD1
krumm_15_ASD_discovery_cases-case12661.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CSMD1
krumm_15_ASD_discovery_cases-case13503.p1
1M-Duov3
Paternal
Simplex
Segregated
RNA5SP251,CSMD1
krumm_15_ASD_discovery_cases-case14152.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CSMD1
kushima_18_ASD_discovery_cases-caseASD0531
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Not simplex
Unknown
CSMD1
kushima_18_ASD_discovery_cases-caseASD0580
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
CSMD1
kushima_18_ASD_discovery_cases-caseASD0741
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
CSMD1
kushima_18_SCZ_discovery_cases-caseSCZ0369
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
CSMD1
kushima_18_SCZ_discovery_cases-caseSCZ0388
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
CSMD1
kushima_18_SCZ_discovery_cases-caseSCZ0494
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
CSMD1
kushima_18_SCZ_discovery_cases-caseSCZ1164
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
RNA5SP251,PAICSP4,CSMD1
kushima_18_SCZ_discovery_cases-caseSCZ2360
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
CSMD1
kushima_18_SCZ_discovery_cases-caseSCZ2363
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
CSMD1
kushima_22_ASD_discovery_cases-caseASD0531
qRT-PCR
Maternal
CSMD1
kushima_22_ASD_discovery_cases-caseASD0580
qRT-PCR
Unknown
CSMD1
kushima_22_ASD_discovery_cases-caseASD1146
qRT-PCR
Unknown
CSMD1,PAICSP4,RN7SL318P
kushima_22_BPD_discovery_cases-caseBD0828
qRT-PCR
Unknown
CSMD1
kushima_22_SCZ_discovery_cases-caseSCZ1164
qRT-PCR
Unknown
CSMD1,PAICSP4,RNA5SP251
lesca_12_EP_discovery_cases-caseDZ29
qPCR
Paternal
Unknown
Unknown
CSMD1
levy_11_ASD_discovery_cases-11225.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
CSMD1
levy_11_ASD_discovery_cases-11676.p1
Maternal
Simplex
Not segregated
CSMD1
morrow_08_ASD_discovery_cases-case3605
Paternal
Multiplex
NA
5' end of MCPH1
morrow_08_ASD_discovery_cases-case3605
Paternal
Multiplex
NA
CSMD1
morrow_08_ASD_discovery_cases-case9201
Maternal
NA
NA
CSMD1
nord_11_ASD_discovery_cases-310-1
Maternal
CSMD1
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_5-CSMD1-3'
Unknown
CSMD1
okur_21_ASD/EP/NDD_discovery_cases-casedup(8p)_3-CSMD1-3'
Unknown
CSMD1
pinto_10_ASD_discovery_cases-case2234_1
qPCR
maternal
NA
NA
CSMD1 intronic
pinto_10_ASD_discovery_cases-case5125_3
Agilent1M
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5225_3
Agilent1M-Paternal
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5429_3
Agilent1M
paternal
NA
NA
poultney_13_ASD_discovery_cases-case99HI1083A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNA5SP251,CSMD1
prasad_12_ASD_discovery_cases-case100679L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case154264L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case165455L
Unknown
Unknown
Unknown
CSMD1
prasad_12_ASD_discovery_cases-case60662-L
Unknown
Unknown
Unknown
CSMD1
prasad_12_ASD_discovery_cases-case63586-L
Unknown
Unknown
Unknown
CSMD1
prasad_12_ASD_discovery_cases-case65891
Unknown
Unknown
Unknown
CSMD1
prasad_12_ASD_discovery_cases-case90651
Unknown
Unknown
Unknown
CSMD1
rosenfeld_10_ASD_discovery_cases-case13747
FISH
Unknown
Unknown
Unknown
CSMD1
rosenfeld_10_ASD_discovery_cases-case9019
FISH
Paternal
Unknown
Unknown
CSMD1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-194
Not tested by qPCR
Unknown
Unknown
Unknown
sanders_11_ASD_discovery_cases-11017.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-11033.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-11051.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11053.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11073.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11160.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11178.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11196.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-11198.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-11225.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
CSMD1
sanders_11_ASD_discovery_cases-11267.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-11330.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11336.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-11359.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PAICSP4,CSMD1
sanders_11_ASD_discovery_cases-11372.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11435.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-11437.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11468.p1
Maternal
Simplex (trio)
NA
CSMD1
sanders_11_ASD_discovery_cases-11473.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11479.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11485.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11538.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-11558.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11592.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11598.p1
Paternal
Simplex (trio)
NA
CSMD1
sanders_11_ASD_discovery_cases-11599.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11610.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11676.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-11691.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-11704.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11710.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11718.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11731.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11800.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
CSMD1
sanders_11_ASD_discovery_cases-11808.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11825.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11841.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11841.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11846.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11888.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11990.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-12028.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12057.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-12099.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12113.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12149.p1
Paternal
Simplex (trio)
NA
CSMD1
sanders_11_ASD_discovery_cases-12189.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12189.p1
Paternal
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-12198.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12201.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-12221.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12392.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12418.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-12480.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12536.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12543.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12607.p1
Paternal
Simplex (trio)
NA
CSMD1
sanders_11_ASD_discovery_cases-12621.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12661.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12661.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-12701.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-12780.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12782.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12843.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
CSMD1
sanders_11_ASD_discovery_cases-12864.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12908.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CSMD1
sanders_11_ASD_discovery_cases-12977.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13038.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13077.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CSMD1
shin_15_ASD/DD/ID_discovery_cases-case20
Unknown
Unknown
PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,CSMD1
shin_15_ASD/DD/ID_discovery_cases-case21
Unknown
Unknown
PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,CSMD1
shin_15_ASD/DD/ID_discovery_cases-case22
Unknown
Unknown
PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,CSMD1
stamouli_18_ASD/NDD_discovery_cases-family11_Twin_1
qPCR
Maternal
Multiplex
Segregated (CNV present in both affected twins)
CSMD1
stamouli_18_ASD/NDD_discovery_cases-family11_Twin_2
qPCR
Maternal
Multiplex
Segregated (CNV present in both affected twins)
CSMD1
szatmari_07_ASD_discovery_cases-NAAR054-B12-HI0189
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
szatmari_07_ASD_discovery_cases-NAAR054-C1-HI0191
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
PAICSP4,CSMD1
szatmari_07_ASD_discovery_cases-NAAR063-C5-HI1372
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
CSMD1
szatmari_07_ASD_discovery_cases-NAAR067-A8-HI2741
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
CSMD1
yin_16_ASD_discovery_cases-case295
Unknown
Unknown
Unknown
RNA5SP251,CSMD1
yin_16_ASD_discovery_cases-case296
Unknown
Unknown
Unknown
CSMD1
yin_16_ASD_discovery_cases-case297
Unknown
Unknown
Unknown
CSMD1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10465
Unknown
RNA5SP251,CSMD1
brandler_18_ASD_discovery_controls-controlSJD_66.4
SNP VCF
De novo
engchuan_15_ASD_discovery_controls-control110036017028_
Unknown
engchuan_15_ASD_discovery_controls-control110036019495_
Unknown
engchuan_15_ASD_discovery_controls-control110036022143_
Unknown
engchuan_15_ASD_discovery_controls-control110036023364_
Unknown
engchuan_15_ASD_discovery_controls-control110036024867_
Unknown
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
Unknown
engchuan_15_ASD_discovery_controls-controlB338193_1007852606
Unknown
engchuan_15_ASD_discovery_controls-controlB340331_1007844528
Unknown
engchuan_15_ASD_discovery_controls-controlB386236_1007853834
Unknown
engchuan_15_ASD_discovery_controls-controlB427661_1007840422
Unknown
engchuan_15_ASD_discovery_controls-controlB445697_1007853831
Unknown
CSMD1
engchuan_15_ASD_discovery_controls-controlB468914_1007854173
Unknown
CSMD1
engchuan_15_ASD_discovery_controls-controlB519248_1007840750
Unknown
engchuan_15_ASD_discovery_controls-controlB666406_1007854768
Unknown
CSMD1
engchuan_15_ASD_discovery_controls-controlB703785_1007873472
Unknown
engchuan_15_ASD_discovery_controls-controlB749532_1007845879
Unknown
engchuan_15_ASD_discovery_controls-controlB764926_1007854164
Unknown
RN7SL318P
engchuan_15_ASD_discovery_controls-controlB834607_0067942618
Unknown
engchuan_15_ASD_discovery_controls-controlB836181_0057060970
Unknown
engchuan_15_ASD_discovery_controls-controlB856688_1007852525
Unknown
engchuan_15_ASD_discovery_controls-controlB889239_1007844977
Unknown
engchuan_15_ASD_discovery_controls-controlB916627_1007870356
Unknown
CSMD1
engchuan_15_ASD_discovery_controls-controlB957333_1007873686
Unknown
engchuan_15_ASD_discovery_controls-controlB963921_1007872666
Unknown
engchuan_15_ASD_discovery_controls-controlB994805_1007853994
Unknown
CSMD1
engchuan_15_ASD_discovery_controls-controlHABC_900318_900318
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900378_900378
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900452_900452
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900467_900467
Unknown
RN7SKP159
engchuan_15_ASD_discovery_controls-controlHABC_900543_900543
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900573_900573
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900828_900828
Unknown
RN7SKP159
engchuan_15_ASD_discovery_controls-controlHABC_900997_900997
Unknown
CSMD1
engchuan_15_ASD_discovery_controls-controlHABC_901077_901077
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901129_901129
Unknown
RPL23AP54
engchuan_15_ASD_discovery_controls-controlHABC_901159_901159
Unknown
CSMD1
engchuan_15_ASD_discovery_controls-controlHABC_901203_901203
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901238_901238
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902452_902452
Unknown
RN7SKP159
engchuan_15_ASD_discovery_controls-controlHABC_902554_902554
Unknown
CSMD1
engchuan_15_ASD_discovery_controls-controlHABC_902591_902591
Unknown
CSMD1
engchuan_15_ASD_discovery_controls-controlHABC_902624_902624
Unknown
guo_17_ASD_discovery_controls-controlPY2614
qPCR
Unknown
PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,CSMD1
kanduri_15_ASD_discovery_controls-control_split2119
Unknown
CSMD1
kanduri_15_ASD_discovery_controls-control_split902
Unknown
CSMD1
krumm_13_ASD_discovery_controls-control11336.s1
Paternal
Simplex
CSMD1
krumm_15_ASD_discovery_controls-control11336.s1
Illumina 1M
Paternal
CSMD1
kushima_18_ASD/SCZ_discovery_controls-controlCON0643
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
CSMD1
kushima_18_ASD/SCZ_discovery_controls-controlCON0852
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
CSMD1
kushima_18_ASD/SCZ_discovery_controls-controlCON1082
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
CSMD1
kushima_18_ASD/SCZ_discovery_controls-controlCON1391
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
CSMD1
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1082
qRT-PCR
Unknown
CSMD1
levy_11_ASD_discovery_controls-11666.s1
Maternal
Simplex
NA
PAICSP4,RN7SL318P,CSMD1
levy_11_ASD_discovery_controls-11676.s1
Maternal
Simplex
NA
CSMD1
sanders_11_ASD_discovery_controls-11009.s1
Maternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-11033.s1
Paternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-11047.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11053.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11077.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11086.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11160.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11168.s1
Paternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-11245.s1
Paternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-11267.s1
Maternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-11275.s1
Maternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-11330.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11336.s1
Paternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-11372.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11437.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11458.s1
Maternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-11538.s1
Maternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-11599.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11666.s1
Maternal
Simplex (quad)
NA
PAICSP4,RN7SL318P,CSMD1
sanders_11_ASD_discovery_controls-11667.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11673.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11676.s1
Maternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-11723.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11731.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11818.s1
Paternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-11888.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11941.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11941.s1
Maternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-12030.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12052.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12113.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12201.s1
Maternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-12321.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12418.s1
Paternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-12621.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12624.s1
Maternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-12651.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12661.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12701.s1
Paternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-12780.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12782.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12864.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12879.s1
Paternal
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-12892.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12962.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12964.s1
Unknown
Simplex (quad)
NA
CSMD1
sanders_11_ASD_discovery_controls-12977.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12977.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13070.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13226.s1
Maternal
Simplex (quad)
NA
CSMD1
wang_10_ASD_discovery_controls-Aut38
Unknown
NA
NA
PAICSP4,CSMD1
No Animal Model Data Available