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3p26.3CNV Type: Deletion-Duplication


Largest CNV size: 1133950 bp

Statistics Box:
Number of Reports: 53



Summary Information

Deletions and duplications at the 3p26.3 locus have been observed at approximately equal frequencies in autistic cohorts. Potential genes of interest in this locus include members of the contactin gene family CNTN4 and CNTN6.

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Disruption of contactin 4 in three subjects with autism spectrum disorder.
Deletion-Duplication
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Deletion
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Deletion-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
Contactin 4 as an autism susceptibility locus.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Disruption of Contactin 4 in two subjects with autism in Chinese population.
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.
Deletion-Duplication
Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Duplication
NA
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Duplication
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
Deletion-Duplication
NA
Duplication
NA
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
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.
Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Deletion
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Duplication
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Deletion-Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion-Duplication
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
NA
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication
NA
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bitar_19_ASD_discovery_cases
  NA NA
 ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
 19
 Cases diagnosed with ASD using DSM-IV criteria and CARS
 N/A
 84.21% Male
 587000
 0
 1
 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
 69321
 2
 0
 2
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 70592
 2
 0
 2
 chilian_13_DD/ID_discovery_cases
 Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
 1
 Severe DD/ID, language impairment, behavioral abnormalities
 5 yrs.
 Male
 33630
 0
 1
 1
 christian_08_ASD_discovery_cases
 Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
 397
 ASD
 
 58.4% Male
 700000
 1
 0
 1
 cottrell_11_ASD_discovery_cases
 4 yr old male ASD patient referred to Nationwide Children's Hospital (NCH), Columbus OH, genetics clinic for evaluation & genetic counseling regarding a diagnosis of autism & an abnormal microarray
 1
 ASD (ADOS)
 4
 Male
 535000
 1
 0
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 2100000
 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
 1597447
 14
 17
 31
 feliciano_19_ASD_discovery_cases
 ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
 465
 All cases diagnosed with ASD
 Range of age at enrollment, 1.544.6 years
 80.86% Male
 181802
 0
 1
 1
 fry_16_DD/ID/EP/ASD_discovery_cases
 Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
 80
 All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
 Range, <1 yr.-60 yrs.
 45.0% Male
 575000
 0
 1
 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
 
 
 929699
 1
 3
 4
 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
 
 
 668817
 5
 3
 8
 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
 82492
 2
 0
 2
 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.
 
 
 741007
 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
 1296000
 0
 12
 12
 glessner_09_ASD_discovery_cases
 Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
 859
 859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
 Range, 2-21
 81.8% Male
 732
 3
 1
 4
 glessner_09_ASD_replication_cases
 Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
 1336
 1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
 Mean, 9.2 5.3
 78.7% Male
 732
 7
 8
 15
 griswold_12_ASD_discovery_cases
 Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
 813
 Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
 Range, 3-21 yrs.
 NA
 1597447
 1
 0
 1
 guo_12_ASD_discovery_cases
 Autistic probands recruited from the Outpatient Department of Mental Health Institute at the Second Xiangya Hospital of Central South University, Changsha, China
 2
 Diagnosis of autism by experienced psychiatrists according to DSM-IV-TR criteria for autism and assessed by neurological evaluations, mental status examinations, Childhood Autism Rating Scale (CARS), and chromosomal karyotype analysis.
 Range, 6-7 yrs.
 Male
 1600000
 0
 2
 2
 guo_17_ASD_discovery_cases
 ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
 546
 Diagnosis of ASD based on DSM-IV-TR criteria
 Mean, 5.065 years
 N/A
 1859623
 0
 1
 1
 guo_18_ASD/DD/ID_discovery_cases
 Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
 213
 Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
 N/A
 N/A
 186599
 0
 1
 1
 hnoonual_17_ASD_discovery_cases
 Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
 114
 68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
 Range, 1-18 years (at time of recruitment)
 79.82% Male
 159000
 0
 1
 1
 hu_15_ASD/DD/ID/EP_discovery_cases
 3724 patients ascertained through the University of Pittsburgh Medcial Center from January 2009 to January 2013 that were screened to identify individuals with 3p26.3 CNVs involving the CNTN6 gene
 3724
 Reasons for referral: multiple congenital anomalies, heart defects, short stature, developmental delay, intellectual disability, ASD, seizures, or other unexplained anomalies
 N/A
 N/A
 2050000
 7
 7
 14
 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
 1421815
 12
 15
 27
 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
 38312
 0
 1
 1
 kashevarova_14_ASD/ID_discovery_cases
 Two affected siblings and two additional unrelated patients with CNVs at the 3p26.3 locus
 4
 All four cases present with intellectual disability (ID); one case with an additional diagnosis of atypical autism (diagnostic tools N/A)
 Range, 9-15 yrs.
 50% Male
 766100
 3
 1
 4
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 255410
 1
 10
 11
 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
 2351817
 4
 1
 5
 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
 30965
 1
 0
 1
 leblond_12_ASD_replication_cases
 Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
 2
 1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
 NA
 100% Male
 69707
 1
 0
 1
 lee_17_ASD/DD/ID/MCA_discovery_cases
 Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
 42
 Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
 Range, newborn-38 yrs.
 69.05% Male
 1006
 1
 0
 1
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 1300000
 0
 1
 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
 206000
 0
 2
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 888545
 0
 1
 1
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
 Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
 89985
 64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
 N/A
 N/A
 57616
 1
 0
 1
 li_16_ASD/DD_discovery_cases
 First child of healthy, non-consanguineous parents presenting with a maternally-inherited 3p26.3 microduplication containing the CHL1 gene
 1
 Case diagnosed with ASD and developmental delay. Diagnosis of ASD according to DSM-V criteria and evaluation by ADOS-Toddler Module. Cognitive and developmental evaluation performed using Bayley Scales of Infant Development-2.
 16 mos.
 Male
 687000
 0
 1
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 1500000
 0
 1
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 74287
 0
 1
 1
 mercati_16_ASD_discovery_cases
 ASD probands from the Paris Autism Research International Sibpair (PARIS) cohort screened for CNVs involving CNTN5 and CNTN6
 633
 Diagnosis of ASD based on clinical expert assessment including ADI-R or DISCO-10 and ADOS. Intellectual quotient measured using age-appropriate Wechsler scale, Raven's Standard Progressive Matrices, or Peabody Picture Vocabulary Test.
 <12 yrs., n=11; 12-<18 yrs., n=119; 18 years or older, n=317; age N/A, n=186
 82.46% Male
 636491
 4
 0
 4
 monteiro_19_ASD_discovery_cases
  NA NA
 Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
 253
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
 N/A
 76.68% Male
 247000
 1
 0
 1
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 17618
 1
 0
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 203709
 1
 3
 4
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 1143829
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 787697
 3
 7
 10
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 1597448
 2
 0
 2
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 1262016
 3
 4
 7
 repnikova_19_ASD/DD/ADHD_discovery_cases
 Unrelated individuals with exonic CNVs involving the CNTN6 gene from an initial cohort of 6,200 patients referred to Children's Mercy Hospital and 14,026 patients referred to Nationwide Children's Hospital for microarray testing from 2008 to 2015
 19
 The most frequently observed phenotypes in this cohort were developmental delay (9 patients), ASD (diagnosis based on DSM-IV criteria in seven patients), and ADHD (six patients).
 Range, 10 days-60 years
 63.16% Male
 650460
 6
 13
 19
 roohi_09_ASD_discovery_cases
 Subjects from 81 different families recruited from Cody Center for Autism and Developmental Disabilities clinic
 92
 ASD
 
 
 791097
 2
 1
 3
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 829637
 2
 1
 3
 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
 335709
 0
 1
 1
 salyakina_11_ASD_discovery_cases
 ASD patients from extended ASD families (defined as families with at least two affected cousins)
 97
 ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS
 Range, 3-21 yrs.
 
 46687
 0
 2
 2
 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
 883084
 41
 15
 56
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 381000
 1
 1
 2
 tropeano_16_ASD/NDD_replication_cases
 Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)
 18857
 Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.
 N/A
 BBGRE cohort, 67% Male; Hospit
 316290
 1
 0
 1
 van_daalen_11_ASD_discovery_cases
 ASD probands selected from initial cohort of 210 preschoolers based on clinical characteristic scores. 21 probands from multiplex families, 29 probands from simplex families. Social Responsiveness Scale (SRS) administered to probands, parents, and available siblings.
 50
 ASD (DSM-IV-TR, ADOS-G, and ADI-R)
 
 
 1133950
 1
 1
 2
 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
 1127000
 0
 0
 0
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 2237999
 1
 2
 3
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  NA NA
 Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
 2691
 1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
 
 76.37% Male
 1734890
 1
 2
 3

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_controls
 Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
 630
 Control
 N/A
 N/A
 69321
 1
 0
 1
 christian_08_ASD_discovery_controls
 Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
 372
 Controls
 
 
 700000
 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
 1472920
 12
 33
 45
 gai_11_ASD_discovery_controls
 Samples recruited from visits conducted within CHOP healthcare network
 1775
 Controls: patients screened for having no chronic illness/health issues as well as autism
 Range, 3-18 yrs.
 
 N/A
 
 
 1
 gai_11_ASD_replication_controls
 Healthy individuals comprising the CHOP CNV resource
 2026
 Controls
 
 
 N/A
 
 
 1
 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.
 
 
 741007
 0
 0
 0
 glessner_09_ASD_discovery_controls
 Controls
 1409
 Controls
 
 
 732
 0
 1
 1
 glessner_09_ASD_replication_controls
 Controls
 1110
 Controls
 
 
 732
 0
 0
 0
 griswold_12_ASD_discovery_controls
 Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
 592
 Control
 Range, preterm-21 yrs.
 NA
 1597447
 0
 0
 0
 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
 0
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 36296
 7
 0
 7
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 1350872
 1
 3
 4
 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
 287639
 4
 0
 4
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 888545
 1
 2
 3
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 mercati_16_ASD_discovery_controls
 Controls from this study (n=2126), SAGE+ Hapmap3 (Pinto et al., 2010; n=1287), HBAC (n=2566), KORA (n=1775), and COGEND (n=1182) screened for CNTN5 and CNTN6 CNVs
 8936
 Control
 N/A
 N/A
 N/A
 1
 12
 13
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 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.
 
 584805
 0
 1
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 1262016
 0
 0
 0
 roohi_09_ASD_discovery_controls
 Unrelated normal controls (NIMH)
 560
 Controls
 
 
 791097
 0
 0
 0
 salyakina_11_ASD_discovery_controls
 Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)
 838
 Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions
 
 
 46687
 0
 2
 2
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 883084
 32
 8
 40
 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
 1127000
 0
 2
 2

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 bitar_19_ASD_discovery_cases
  Lebanon
 aCGH
  Agilent SurePrint G3 2x400K
 ADM-2
 Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
 qPCR
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 chilian_13_DD/ID_discovery_cases
  Germany
 aCGH
  Agilent Human Genome CGH Microarray 244A
 
 
 None
 christian_08_ASD_discovery_cases
  235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
 aCGH
  RPCI 19K BAC microarray
 
 
 FISH, microsatellite, qPCR
 cottrell_11_ASD_discovery_cases
 
 aCGH
  BAC-based microarray; SignatureChip v4.0 (Signature Genomic Labs)
 
 Genoglyphix
 FISH
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 None
 fry_16_DD/ID/EP/ASD_discovery_cases
  78 White British, 1 South Asian, 1 Mixed White/South Asian
 aCGH, solid phase hybridization
  Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
 PennCNV
 Illumina BlueFuse Multi v3.1
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 qPCR
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 qPCR
 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_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
 glessner_09_ASD_discovery_cases
  European
 Solid phase hybridization
  HumanHap550 BeadChip
 PennCNV
 
 qPCR, MLPA, array SNP
 glessner_09_ASD_replication_cases
  European
 Solid phase hybridization
  HumanHap550 BeadChip
 PennCNV
 
 qPCR, MLPA, array SNP
 griswold_12_ASD_discovery_cases
  Range of self-reported ethnicities (specifics NA)
 Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
 Penn CNV, QuantiSNP
 BeadStudio
 qPCR
 guo_12_ASD_discovery_cases
  Han Chinese
 Solid phase hybridization
  Illumina HumanCNV370-Quad BeadChip
 PennCNV
 
 qPCR
 guo_17_ASD_discovery_cases
  Chinese Han
 Solid phase hybridization
  Illumina 370K or 660K BeadChip
 PennCNV
 
 qPCR
 guo_18_ASD/DD/ID_discovery_cases
  N/A
 WGS
  Illumina HiSeq X Ten
 dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
 
 aCGH, Sanger sequencing
 hnoonual_17_ASD_discovery_cases
  Thai
 Solid phase hybridization
  Illumina Infinium CytoSNP-850K v1.1 BeadChip
 
 BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
 None
 hu_15_ASD/DD/ID/EP_discovery_cases
  N/A
 aCGH
  NimbleGen135K
 
 Genoglyphix v2.6
 FISH
 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
 kashevarova_14_ASD/ID_discovery_cases
  N/A
 aCGH, array SNP
  Agilent 60K, Affymetrix CytoScan ID
 
 
 RT-PCR
 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
 leblond_12_ASD_replication_cases
  1 Canadian, 1 French
 Solid phase hybridization
  Illumina 1M SNP array
 QuantiSNP, PennCNV
 
 None
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 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
 
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP, solid phase hybridization
  Multiple platforms (Agilent, Affymetrix, Illumina)
 
 
 None
 li_16_ASD/DD_discovery_cases
  China
 aCGH
  N/A
 
 
 qPCR
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 mercati_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 660W Quad, Illumina 1M duo, Illumina Omni1, Illumina Omni2.6
 PennCNV, QuantiSNP
 
 None
 monteiro_19_ASD_discovery_cases
  Portuguese
 aCGH
  Agilent SurePrint G3 4x180K
 
 Agilent Cytogenomics
 None
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 qPCR
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 FISH
 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)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 repnikova_19_ASD/DD/ADHD_discovery_cases
  N/A
 aCGH, array SNP
  Roche NimbleGen 135K, Agilent CGH+SNP 135K, OGT 4x180K ISCA v2, Affymetrix Cytoscan HD
 
 Agilent CGH analytics v.3.4.40, Agilent Feature Extraction v.9.5.1, Agilent DNA Analytics v.4.0.91,
 FISH, qPCR
 roohi_09_ASD_discovery_cases
 
 aCGH
  Tiling path BAC arrays
 
 
 FISH
 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)
 salyakina_11_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
 PennCNV
 BeadStudio v3
 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
 
 
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None
 tropeano_16_ASD/NDD_replication_cases
  United Kingdom and Canada
 aCGH
  Agilent 60K, OGT Cytosure 4x180K
 ADM-2
 Agilent Feature Extraction, Agilent Genomic Workbench, Agilent Feature Extraction v.10.7.11, OGT Cyt
 None
 van_daalen_11_ASD_discovery_cases
  Netherlands
 Solid phase hybridization
  Illumina HumanHap300 BeadChip
 
 Beadstudio V2.3.41
 Inheritance
 wang_10_ASD_discovery_cases
  Croatian
 Solid phase hybridization
  Illumina HumanHap550 BeadChip
 PennCNV
 BeadStudio
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_discovery_controls
  N/A
  WGS
  Illumina HiSeq X10 or HiSeq 2500
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  PCR, array SNP
  christian_08_ASD_discovery_controls
  262 Caucasians, 100 African-Americans
  aCGH
  RPCI 19K BAC microarray
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  gai_11_ASD_discovery_controls
  1005 European descent, 723 African descent, 47 Asian descent
  Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
  BeadStudio 3.0
  None
  gai_11_ASD_replication_controls
 
  Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
  BeadStudio 3.0
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  glessner_09_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  HumanHap550 BeadChip
  PennCNV
 
 
  glessner_09_ASD_replication_controls
  Caucasian
  Solid phase hybridization
  HumanHap550 BeadChip
  PennCNV
 
 
  griswold_12_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
  Penn CNV, QuantiSNP
  BeadStudio
 
  guo_17_ASD_discovery_controls
  Chinese Han
  Solid phase hybridization
  Illumina 610K BeadChip
  PennCNV
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
  aCGH (Agilent 244K)
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  mercati_16_ASD_discovery_controls
  N/A
  Solid phase hybridization
  Illumina 660Wq, Illumina 1M, Illumina 1M duo, Illumina Omni1, Illumina 2.5M, Illumina 2.5M Quad, Illumina 5M
 
 
  None
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  roohi_09_ASD_discovery_controls
 
  aCGH
  Tiling path BAC arrays
 
 
 
  salyakina_11_ASD_discovery_controls
  727 Caucasian, 111 African-American
 
 
 
 
 
  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

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  bitar_19_ASD_discovery_cases-case92
  NA NA
 N/A
 M
 ASD and Down syndrome
 Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: echolalia, hyperactivity, fear, anxiety, self-injurious behavior. Additional medical history: Down syndrome. Family history: born to non-consanguineous parents; history of hypertension on the maternal side of the family.
 
 118028
 705158
  587131
 GRCh38
 Duplication
 Yes
  brandler_18_ASD_discovery_cases-caseSSC03348
 N/A
 M
 ASD
 Case from SSC_phase1 cohort
 
 2169609
 2238930
  69322
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_discovery_cases-caseSSC11369
 N/A
 M
 ASD
 Case from SSC_phase1 cohort
 
 2238214
 2238937
  724
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_replication_cases-case1-0125-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 2722864
 2727960
  5097
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-case1-0804-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 2473732
 2544323
  70592
 GRCh38
 Deletion
 No
  chilian_13_DD/ID_discovery_cases-case1
 5 yrs.
 M
 Developmental delay/intellectual disability
 Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
 Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
 52266
 85896
  33631
 GRCh38
 Duplication
 No
  christian_08_ASD_discovery_cases-AU066005
 NA
 F
 ASD
 NA
 NA
 2305040
 2894900
  589861
 GRCh38
 Deletion
 Yes
  cottrell_11_ASD_discovery_cases-probandA154
 4
 M
 ASD
 Total score on ADOS Module 1 =19; Age 2 yrs.: normal motor milestones, significant developmental/speech delays (no intelligble speech). Age 3.5 yrs.: echolalia, hand flapping, fascination with lights, daily tantrums, episodes of aggression; no dysmorphism; weight 85th centile, height 35th centile , head circumference 75-90th centile.
 Leiter-R IQ=109 (73%); Mullen Early Scales of Learning Composite Score of 49 (<1%), with delays in all areas
 1694496
 2228941
  534446
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300203
  NA NA
 N/A
 M
 
 Abnormal facial shape, arachnoid cyst
 
 52266
 2143591
  2091326
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case1108_6
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1537586
 1680597
  143012
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13035_443
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1929932
 2004726
  74795
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14121_2140
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 453655
 543407
  89753
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14151_2500
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19366
 282466
  263101
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14281_4040
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 2348928
 2858416
  509489
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14364_4780
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40338
 87014
  46677
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14387_4960
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1101740
 2170634
  1068895
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16059_1571075001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 200230
 241356
  41127
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16095_1571145001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1680597
 1716405
  35809
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case17035_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 251309
 415481
  164173
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20070_1331001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1840507
 1913397
  72891
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3085_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19366
 209321
  189956
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3147_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1614300
 1690164
  75865
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3614_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 2478019
 2542692
  64674
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4374_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19366
 1616807
  1597442
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4386_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 2704772
 3088961
  384190
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4386_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1017970
 1490847
  472878
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5065_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1703098
 1770268
  67171
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5081_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1074220
 1200412
  126193
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5146_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 295862
 336386
  40525
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5241_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 447498
 1235193
  787696
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5267_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 3081642
 3167834
  86193
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5269_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 2628024
 2859963
  231940
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5312_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 210661
 1469424
  1258764
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5355_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1961820
 2134481
  172662
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5391_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1251658
 1290513
  38856
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5456_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40338
 91729
  51392
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6037_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40338
 85994
  45657
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6319_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 2375807
 2445513
  69707
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8007_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1846201
 1899676
  53476
 GRCh38
 Deletion
 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)
 
 842168
 1092761
  250594
 GRCh38
 Duplication
 No
  feliciano_19_ASD_discovery_cases-caseSP0028854
 N/A
 M
 ASD
 Family history: both parents are negative for ASD and have no reported mental health diagnoses.
 
 1220686
 1402487
  181802
 GRCh38
 Duplication
 No
  fry_16_DD/ID/EP/ASD_discovery_cases-caseR981
 5 yrs.
 F
 ASD, developmental delay and epilepsy
 Clinical features: severe developmental delay, developmental regression, ASD, leg hypertonia. Age of seizure onset: 1 week. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: absence seizures, atonic seizures, myoclonic seizures, tonic seizures.
 Severe developmental delay
 684991
 1260146
  575156
 GRCh38
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1070302
 
 
 Autism
 
 
 2004929
 2934627
  929699
 Unknown
 Duplication
 Yes
  gai_11_ASD_discovery_cases-AU1156301
 
 
 Autism
 
 
 947059
 989483
  42425
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1916302
 
 
 Autism
 
 
 947059
 1306135
  359077
 Unknown
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1916302
 
 
 Autism
 
 
 1475657
 1894850
  419194
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU025503
 
 
 Autism
 
 
 1561672
 1697281
  135610
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU025506
 
 
 Autism
 
 
 1561672
 1697281
  135610
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU036404
 
 
 Autism
 
 
 1862885
 1915922
  53038
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU038004
 
 
 Autism
 
 
 1074220
 1200412
  126193
 GRCh38
 Deletion
 No
  gai_11_ASD_replication_cases-AU044004
 
 
 Autism
 
 
 858851
 1118424
  259574
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU066004
 
 
 Autism
 
 
 2187318
 2856134
  668817
 Unknown
 Deletion
 Yes
  gai_11_ASD_replication_cases-AU066005
 
 
 Autism
 
 
 2187318
 2856134
  668817
 Unknown
 Deletion
 Yes
  gai_11_ASD_replication_cases-AU0920302
 
 
 Autism
 
 
 1056998
 1217096
  160099
 Unknown
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case523-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 244100
 277129
  33030
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case608-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 2310316
 2392808
  82493
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si193
 8
 M
 Autism
 ADOS score: 8. Vineland composite score: 86.
 No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 84; Non-verbal IQ, 106.
 1230901
 1971908
  741008
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-11851.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
 533317
 1413316
  880000
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-11999.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
 533317
 1413316
  880000
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-12940.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
 2263316
 2773316
  510001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13739.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
 2263316
 2773316
  510001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13783.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
 1053316
 1433316
  380001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13845.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
 1863316
 2543316
  680001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13949.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
 1993316
 2343316
  350001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13988.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
 63317
 373317
  310001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-14018.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
 2243316
 2743316
  500001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-AU020103
 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
 1273316
 1543316
  270001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-AU082505
 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
 2173316
 2433316
  260001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-AU1765302
 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
 1043316
 2343316
  1300001
 GRCh38
 Duplication
 No
  glessner_09_ASD_discovery_cases-12989_64063
 NA
 
 ASD
 NA
 NA
 1898506
 1899238
  733
 GRCh38
 Deletion
 Yes
  glessner_09_ASD_discovery_cases-2261786327
 NA
 
 ASD
 NA
 NA
 1898506
 1899238
  733
 GRCh38
 Deletion
 Yes
  glessner_09_ASD_discovery_cases-AU01303
 NA
 
 ASD
 NA
 NA
 1898506
 1899238
  733
 GRCh38
 Deletion
 Yes
  glessner_09_ASD_discovery_cases-Owely_E016
 NA
 
 ASD
 NA
 NA
 2531464
 2531847
  384
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU018003
 NA
 
 ASD
 NA
 NA
 1898506
 1899238
  733
 GRCh38
 Deletion
 Yes
  glessner_09_ASD_replication_cases-AU018004
 NA
 
 ASD
 NA
 NA
 1898506
 1899238
  733
 GRCh38
 Deletion
 Yes
  glessner_09_ASD_replication_cases-AU036403
 NA
 
 ASD
 NA
 NA
 1898506
 1899238
  733
 GRCh38
 Deletion
 Yes
  glessner_09_ASD_replication_cases-AU036404
 NA
 
 ASD
 NA
 NA
 1898506
 1899238
  733
 GRCh38
 Deletion
 Yes
  glessner_09_ASD_replication_cases-AU077105
 NA
 
 ASD
 NA
 NA
 2531464
 2531847
  384
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU082803
 NA
 
 ASD
 NA
 NA
 2531464
 2531847
  384
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU0913301
 NA
 
 ASD
 NA
 NA
 2531464
 2531847
  384
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU0913302
 NA
 
 ASD
 NA
 NA
 2531464
 2531847
  384
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU1070302
 NA
 
 ASD
 NA
 NA
 2531464
 2531847
  384
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU1135202
 NA
 
 ASD
 NA
 NA
 1898506
 1899238
  733
 GRCh38
 Deletion
 Yes
  glessner_09_ASD_replication_cases-AU1407301
 NA
 
 ASD
 NA
 NA
 2531464
 2531847
  384
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU1427302
 NA
 
 ASD
 NA
 NA
 2531464
 2531847
  384
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU1427303
 NA
 
 ASD
 NA
 NA
 2531464
 2531847
  384
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU1601301
 NA
 
 ASD
 NA
 NA
 1898506
 1899238
  733
 GRCh38
 Deletion
 Yes
  glessner_09_ASD_replication_cases-AU1601302
 NA
 
 ASD
 NA
 NA
 1898506
 1899238
  733
 GRCh38
 Deletion
 Yes
  griswold_12_ASD_discovery_cases-case18011
 NA
 NA
 ASD/autism
 NA
 NA
 19366
 1616807
  1597442
 GRCh38
 Deletion
 Yes
  guo_12_ASD_discovery_cases-case1
 7 yrs.
 M
 Autism
 Diagnosed with autism at 3 years of age. Total Autism Behaviour Checklist score of 110. Birth/neonatal history: born full-term following C-section. Developmental milestones: developmental regression noted at 30 months; raising head at 4 months, turning over at 7 months, sitting alone at 8 months, creeping at 10 months, standing alone at 12 months, walking alone at 14 months, jogging at 24 months, jumping at 36 months; laughing at 5 months, starting to learn language at 12 months, speaking first single word at 18 months, speaking first phrase at 36 months, speaking first sentence at 44 months; eye contact with relatives at 4 months, following moving objects with eyes at 5 months, waving hand goodbye at 12 months, plaing simple games with adults at 18 months, control of faeces and urine at 24 months. Behavioral/psychiatric evaluation: repetition of sinlge words or phrases; evasion of eye contact; inattention to surrounding environment; difficulty following simple instructions; restricted interests; repetitive behaviors (running back and forth alone); poor mimicking abilities; difficulty playing with toys properly and often destroying them; insensitivity to pain; absence of sense of danger; no self-injurious behavior. Epilepsy/seizures: none. Visual and auditory evalation: no deficits. Family history: only child of healthy, unrelated parents with no family history of autism.
 
 1377342
 2979979
  1602638
 GRCh38
 Duplication
 Yes
  guo_12_ASD_discovery_cases-case1
 7 yrs.
 M
 Autism
 Diagnosed with autism at 3 years of age. Total Autism Behaviour Checklist score of 110. Birth/neonatal history: born full-term following C-section. Developmental milestones: developmental regression noted at 30 months; raising head at 4 months, turning over at 7 months, sitting alone at 8 months, creeping at 10 months, standing alone at 12 months, walking alone at 14 months, jogging at 24 months, jumping at 36 months; laughing at 5 months, starting to learn language at 12 months, speaking first single word at 18 months, speaking first phrase at 36 months, speaking first sentence at 44 months; eye contact with relatives at 4 months, following moving objects with eyes at 5 months, waving hand goodbye at 12 months, plaing simple games with adults at 18 months, control of faeces and urine at 24 months. Behavioral/psychiatric evaluation: repetition of sinlge words or phrases; evasion of eye contact; inattention to surrounding environment; difficulty following simple instructions; restricted interests; repetitive behaviors (running back and forth alone); poor mimicking abilities; difficulty playing with toys properly and often destroying them; insensitivity to pain; absence of sense of danger; no self-injurious behavior. Epilepsy/seizures: none. Visual and auditory evalation: no deficits. Family history: only child of healthy, unrelated parents with no family history of autism.
 
 1120357
 1308450
  188094
 GRCh38
 Duplication
 No
  guo_17_ASD_discovery_cases-caseM8560
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
 
 1120357
 2979979
  1859623
 GRCh38
 Duplication
 Yes
  guo_18_ASD/DD/ID_discovery_cases-caseBK-204-03
 N/A
 F
 ASD
 
 
 1044801
 1231400
  186600
 GRCh38
 Duplication
 Yes
  hnoonual_17_ASD_discovery_cases-caseTM4-3
 N/A
 M
 ASD
 Macrocephaly
 
 63289
 222610
  159322
 GRCh38
 Duplication
 No
  hu_15_ASD/DD/ID/EP_discovery_cases-case1
 5 yrs.
 M
 ASD and developmental delay
 Reasons for referral: ASD, developmental delay. Other features: tantrums, aggression. Family history: father with learning disability; mother with seizures, hearing loss, and mental health issue.
 
 518935
 1746508
  1227574
 GRCh38
 Deletion
 No
  hu_15_ASD/DD/ID/EP_discovery_cases-case10
 6 yrs.
 F
 Developmental delay
 Reasons for referral: developmental delay. Other features: short stature, reflux, joint hypermobility, microcephaly, low anterior hairline, 2nd and 3rd toe syndactyly. Family history: one sister with ASD and microcephaly; another sister with microcephaly; brother with ASD; paternal half-brother with ADHD; both parents with microcephaly; paternal grandmother with seizures.
 
 1107602
 1307200
  199599
 GRCh38
 Duplication
 No
  hu_15_ASD/DD/ID/EP_discovery_cases-case11
 7 yrs.
 M
 ASD, developmental delay, and seizures
 Reasons for referral: ASD, developmental delay, and seizures. Other features: learning disability, ADHD, oppositional defiant disorder (ODD), ventricular septal defect, feeding difficulties, failure to thrive, brachycephaly, upswept anterior hairline, unusual large hallux, short second toe. Family history: father with bipolar disorder and ADHD; brother with ADHD and ODD; paternal twin half-sisters with developmental delay; mother with bipolar disorder and migraines; maternal grandaunt with migraines.
 
 1155938
 1645532
  489595
 GRCh38
 Duplication
 Yes
  hu_15_ASD/DD/ID/EP_discovery_cases-case12
 9 yrs.
 F
 Learning disability
 Reasons for referral: learning disability. Other features: none. Family history: father with intellectual disability, ADHD, bipolar disorder, and depression; mother with bipolar disorder and depression; one sibling with learning disability; sister with intellectual disability.
 
 1172683
 1453643
  280961
 GRCh38
 Duplication
 No
  hu_15_ASD/DD/ID/EP_discovery_cases-case13
 15 yrs.
 F
 ADHD, bipolar disorder, and OCD
 Reasons for referral: Obesity, ADHD, bipolar disorder. Other features: OCD, migraine, scoliosis, fibromyalgia, rheumatoid arthritis, asthma, irritable bowel syndrome. Family history: mother with migraines, fibromyalgia, and psychiatric problem; twin brother and sister with bipolar disorder; maternal half-sister with ADHD and psychiatric problems; paternal grandmother with migraines.
 
 227058
 1113821
  886764
 GRCh38
 Duplication
 Yes
  hu_15_ASD/DD/ID/EP_discovery_cases-case14
 16 yrs.
 M
 Developmental delay, seizures, ADHD, and OCD
 Reasons for referral: developmental delay, seizures, and dysmorphic features. Other features: ADHD, OCD, sensorineural heaing loss, asymmetric face, left esotropia, bilateral ptosis, high-arched palate, short stature, single palmar creases, 5th finger clinodactyly, cranial nerve palsy, micropenis. Family history: father with depression; paternal cousin with ASD.
 
 396611
 2448586
  2051976
 GRCh38
 Duplication
 No
  hu_15_ASD/DD/ID/EP_discovery_cases-case2
 3 yrs.
 M
 Developmental delay and seizures
 Reasons for referral: developmental delay, seizures. Other features: nystagmus, macrocephaly, frontal bossing, down-slanting palpebral fissures, high-arched palate. Family history: paternal aunt with intellectual disability; maternal aunt, cousin, grandmother, and grandaunt with seizures.
 
 1046605
 1868158
  821554
 GRCh38
 Deletion
 No
  hu_15_ASD/DD/ID/EP_discovery_cases-case3
 11 yrs.
 M
 Developmental delay, intellectual disability and seizures
 Reasons for referral: developmental delay, intellectual disability, and seizures. Other features: strabismus, regression in skills, headache. Family history: father with learning disability; mother with seizures, schizophrenia, migraines; multiple members of the maternal side with learning disability, ASD, seizures, depression, anxiety, bipolar disorder, and schizophrenia.
 
 1107602
 1201557
  93956
 GRCh38
 Deletion
 No
  hu_15_ASD/DD/ID/EP_discovery_cases-case4
 6 yrs.
 M
 ASD and developmental delay
 Reasons for referral: ASD and developmental delay. Other features: tantrums. Family history: maternal grandmother with depression.
 
 1210639
 1317407
  106769
 GRCh38
 Deletion
 No
  hu_15_ASD/DD/ID/EP_discovery_cases-case5
 2 yrs.
 M
 Developmental delay and seizures
 Reasons for referral: developmental delay and seizures. Other features: schizencephaly, hydrocephaly, hydronephrosis, diabetes insipidus, hypothyroidism, right-sided spasticity and hemiparesis, and cardiomyopathy. Family history: adopted into family; adopted sibling with schizophrenia.
 
 1250279
 1366144
  115866
 GRCh38
 Deletion
 No
  hu_15_ASD/DD/ID/EP_discovery_cases-case6
 6 yrs.
 F
 Seizures
 Reasons for referral: seizures. Other features: abnormal EEG. Family history: father, who carries CNTN6 deletion, is phenotypically normal; sister with CNTN6 deletion has seizures; mother and brother (both without CNTN6 deletion) are phenotypically normal; maternal aunt with seizures.
 
 1305608
 1430846
  125239
 GRCh38
 Deletion
 Yes
  hu_15_ASD/DD/ID/EP_discovery_cases-case7
 1 yr.
 M
 Heart block
 Reasons for referral: heart block. Other features: none. Family history: no family history of neurodevelopmental and/or neuropsychiatric disorders.
 
 1107602
 1402542
  294941
 GRCh38
 Deletion
 No
  hu_15_ASD/DD/ID/EP_discovery_cases-case8
 7 yrs.
 M
 Developmental delay, seizures, and ADHD
 Reasons for referral: developmental delay and seizures. Other features: ADHD, disruptive behavior disorders, abnormal EEG, macrocephaly, epicanthal folds, high and wide nasal bridge, broad nasal tip, large central incisors. Family history: mother phenotypically normal; father with schizophrenia and alcoholism; sister with developmental delay; maternal half-brother with ADHD, hearing loss, and anxiety.
 
 459953
 1178775
  718823
 GRCh38
 Duplication
 Yes
  hu_15_ASD/DD/ID/EP_discovery_cases-case9
 8 yrs.
 F
 Developmental delay
 Reasons for referral: developmental delay. Other features: short stature, reflux. Family history: father with depression; mother with ADHD and anxiety.
 
 838979
 1380600
  541622
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000038
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 76052
 229025
  152974
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000128
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2301168
 2754945
  453778
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000781
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1450978
 2754945
  1303968
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000894
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 868334
 1341994
  473661
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000954
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2220949
 2920945
  699997
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001041
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 137074
 190872
  53799
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001259
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 996747
 1824012
  827266
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001652
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 171028
 1018461
  847434
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001671
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 244617
 1209150
  964534
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001714
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20521
 1209209
  1188689
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002249
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 245817
 1097280
  851464
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002283
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 63843
 1209209
  1145367
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002436
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 63843
 325628
  261786
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002521
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2558754
 2700464
  141711
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003942
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1823953
 2644088
  820136
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003996
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2057253
 2475366
  418114
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004050
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 868134
 1342135
  474002
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004392
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1155739
 1984726
  828988
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004528
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 296016
 1562138
  1266123
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004673
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2301168
 3219257
  918090
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004764
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2349455
 2431514
  82060
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004893
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2021022
 2529641
  508620
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004952
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 868134
 1342135
  474002
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005296
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1450978
 2754945
  1303968
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005327
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 624574
 1341994
  717421
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005354
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1260116
 1561997
  301882
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005368
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 996747
 2418562
  1421816
 GRCh38
 Deletion
 Yes
  kanduri_15_ASD_discovery_cases-case3021
 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.
 
 82010
 120321
  38312
 Unknown
 Duplication
 No
  kashevarova_14_ASD/ID_discovery_cases-caseF_II-4
 14 yrs.
 F
 Intellectual disability
 Birth/neonatal history: born at 33 weeks gestation; birth weight of 2000 g (3rd %ile), length of 48 cm (10th %ile), Apgar score of 7. Language and communication evaluation: dyslexia and dysarthria; readily answered questions, but answers were abrupt and primitive; occasionally did not hear questions or provided irrelevant answer. Motor and musculoskeletal evaluation: bilateral clinodactyly of 5th finger, bilateral sandal gap, X-shaped legs. Behavioral/psychiatric evaluation: clear consciousness, normally calm, friendly, and shy; occasionally hysterical and aggressive; emotional reactions generally monotnous and primitive; general knowledge limited to everyday interests, could not think abstractly; became easily tired and weakened. Vision evaluation: moderate hyperopia, severe amblyopia. Additional medical history: thyriod hypoplasia, bilateral pyelectasia, right nephroptosis. Dysmorphic features: microcephaly, long face, epicanthus, wide nasal bridge, small ears, short philtrum, crowding of teeth, peg-shaped lateral incisors. Growth parameters: height of 145 cm (3rd %ile), weight of 40 kg (3rd %ile), and head circumference of 48 cm (3rd %ile) at age of 14 years. Family history: affected brother (caseF_11-5); orphan (origin of CNV N/A).
 IQ of 54
 1155939
 1451037
  295099
 GRCh38
 Deletion
 Yes
  kashevarova_14_ASD/ID_discovery_cases-caseF_II-5
 15 yrs.
 M
 Intellectual disability
 Birth/neonatal history: mother had syphilis, pyelonephritis, and bronchitis during pregnancy; case born at 33 weeks gestation with birth weight of 1550 g (3rd %ile) and length of 44 cm (3rd %ile); Apgar score of 6 and 7; born with umbilical cord entanglement; treated for syphilis after discharge from hospital. Developmental milestones: physical and psychomotor delays. Language and communication evaluation: dysarthria. Motor and musculoskeletal evaluation: bilateral clinodactyly of 5th finger, bilateral sandal gap, scoliosis; radiogrpah of wrist joints at age fo 14 years revealed a bone age of 6-7 years. Behavioral/psychiatric evaluation: exhaustible attention, reduced short-term and long-term memory, low adaptive ability. Epilepsy/seizures: absence epilepsy. Additional medical history: hypoplastic left lobe of thyroid gland, testicular hypoplasia. Dysmorphic features: towered skull, frontal bossing, antimongoloid slant, epicanthus, wide nasal bridge, large nose, anteverted nostrils, low-set ears, gothic palate, irregular teeth growth, non-malignant pigmented nevus in the right inguinal region, hypertrichosis. Growth parameters: short stature; height of 140 cm (3rd %ile), weight of 34 kg (3rd %ile), and head circumference of 51 cm (3rd %ile) at age of 15 years. Family history: affected sister (caseF_11-4); orphan (origin of deletion N/A).
 IQ of 49
 1155939
 1451037
  295099
 GRCh38
 Deletion
 Yes
  kashevarova_14_ASD/ID_discovery_cases-caseK_III-1
 9 yrs.
 M
 Intellectual disability
 Birth/neonatal history: born at 42 weeks gestation; birth weight of 3300 g (50th %ile), length of 53 cm (90th %ile), and head circumference of 35 cm (50th %ile); Apgar scores of 7. Developmental milestones: displayed physical and psychomotor developmental delays (sitting at 8 months, walking at 1 year 6 months, first words at 2 years, phrases at 5 years). Language and communication evaluation: speech delay; dysarthria. Motor and musculoskeletal evaluation: impaired fine motor skills, hyperkineses, hypermobility of small and large joints, hypotonia, scoliosis. Behavioral/psychiatric evaluation: hyperactivity until 1 year of age; attention deficit hyperactivity disorder. Brain imaging: computer tomography of the brain did not reveal organic lesions. Additional medical history: cardiologic examination revealed additional chord in left ventricle. Dysmorphic features: dolichocephaly, unusual and coarse hair, low posterior hairline, direct high and widely-set eyebrows, upslanting palpebral fissures, covergent strabismus, epicanthus, wide nasal bridge, small nose, low-set protruding ears with malformed helices, macrostomia, micrognathia, short philtrum, high palate, short neck, cryptorchidism, hypospadias. Growth parameters: height of 131 cm (50th %ile), weight of 25 kg (50th %ile), and head circumference of 50 cm (3rd %ile) at age of 9 years. Family history: 3p26.3 microduplication is also present in case's father and paternal grandmother, both of whom are apparently healthy.
 IQ of 47
 684961
 1451037
  766077
 GRCh38
 Duplication
 Yes
  kashevarova_14_ASD/ID_discovery_cases-caseN_II-1
 14 yrs.
 F
 Autism
 Case diagnosed with atypical autism (diagnostic tools N/A). Birth/neonatal history: uneventful pregnancy and birth; birth weight of 3220 g (50th %ile), birth height of 52 cm (75th %ile). Developmental milestones: slightly delayed motor development (walking at age of 1 year 4 months, but gait was unsteady for a long time); slightly delayed speech development. Motor and musculoskeletal evaluation: hypermobile joints (also present in father and paternal grandmother); good balance; low stamina during balance performance test. Behavioral/psychiatric evaluation: some anxiety. Brain imaging: normal brain MRIs at age of 6 years and 14 years. Additional medical history: intermediate constipation. Dysmorphic features: none. Family history: father and paternal grandmother with hypermobile joints.
 IQ of 40 at age of 13 years
 1386701
 1658638
  271938
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11679.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1220686
 1402486
  181801
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11851.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 1148008
 1403418
  255411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11855.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1227817
 1385797
  157981
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12505.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 1220686
 1402486
  181801
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12783.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 1220686
 1385797
  165112
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13645.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 390700
 405711
  15012
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13739.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 2571503
 2745697
  174195
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13783.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 1148008
 1403418
  255411
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14018.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 2571503
 2745697
  174195
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14196.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 1325814
 1385797
  59984
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14412.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1148008
 1403418
  255411
 GRCh38
 Duplication
 Yes
  kushima_18_ASD_discovery_cases-caseASD0146
 11 yrs.
 M
 ASD
 Family history: positive for MDD.
 IQ > 70
 54166
 2405982
  2351817
 GRCh38
 Duplication
 N/A
  kushima_18_ASD_discovery_cases-caseASD0210
 21 yrs.
 M
 ASD
 Behavioral/psychiatric evaluation: psychiatric symptoms. Congenital and developmental phenotypes: low birth weight. Family history: positive for schizophrenia (SCZ).
 IQ > 70
 1185337
 1255844
  70508
 GRCh38
 Deletion
 N/A
  kushima_18_ASD_discovery_cases-caseASD0215
 21 yrs.
 M
 ASD, ID, epilepsy/seizures
 Developmental milestones: motor delay. Behavioral/psychiatric evaluation: sensory hypersensitivity. Epilepsy/seizures: positive for epileptic seizures/epilepsy. Congenital and developmental phenotypes: threatened premature delivery. Family history: negative.
 Severe intellectual disability
 1133359
 1192637
  59279
 GRCh38
 Deletion
 N/A
  kushima_18_ASD_discovery_cases-caseASD0733
 10 yrs.
 F
 ASD, ADHD
 Behavioral/psychiatric evaluation: ADHD, sensory hypersensitivity. Congenital and developmental phenotypes: external strabismus. Family history: negative.
 IQ > 70
 1247669
 1285156
  37488
 GRCh38
 Deletion
 N/A
  kushima_18_ASD_discovery_cases-caseASD0943
 11 yrs.
 F
 ASD
 Family history: positive for ASD.
 IQ > 70
 1204527
 1310468
  105942
 GRCh38
 Deletion
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ0029
 41 yrs.
 M
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 1264992
 1295956
  30965
 GRCh38
 Deletion
 N/A
  leblond_12_ASD_replication_cases-Pintocase6319_3
 NA
 M
 PDD-NOS
 ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
 Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
 2375807
 2445513
  69707
 GRCh38
 Deletion
 No
  lee_17_ASD/DD/ID/MCA_discovery_cases-case3
 8 yrs.
 M
 Intellectual disability
 
 Intellectual disability
 241067
 242073
  1007
 GRCh38
 Deletion
 No
  leppa_16_ASD_discovery_cases-AU1765302
 N/A
 M
 ASD
 
 
 1049316
 2335316
  1286001
 GRCh38
 Duplication
 No
  lesca_12_EP_discovery_cases-caseDY34
 NA
 M
 Epilepsy + autistic features
 Phenotype: s-CSWSS. Seizure Characteristics: Awake absences. Autistic features: Yes (severe). ADHD features: Yes. Other features: Right frontal/temporal/insular cortical thickening. Dysmorphism..
 Initial cognitive development: Delayed. Cognitive regression: No.
 1414 614
 1620145
  206000
 GRCh37
 Duplication
 Yes
  lesca_12_EP_discovery_cases-caseED15
 NA
 F
 Epilepsy
 Phenotype: LKS-woESES. Seizure Characteristics: CPS. Autistic features: No. ADHD features: Yes. Other features: None.
 Initial cognitive development: Delayed. Cognitive regression: No.
 727749
 758700
  30952
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11999.p1
 NA
 F
 ASD
 NA
 NA
 526265
 1414808
  888544
 GRCh38
 Duplication
 No
  lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
 N/A
 M
 ASD and developmental delay
 Autism/autistic behavior, developmental delay
 
 485613
 543228
  57616
 GRCh38
 Deletion
 No
  li_16_ASD/DD_discovery_cases-case1
 16 mos.
 M
 ASD and developmental delay
 Autism evaluation using ADOS-Toddler Module revealed social affect score of 20, a restricted and repetitive behavior score of 5, and an overall score of 25, indicating diagnosis of moderate-to-severe ASD; diagnosis of ASD according to DSM-V criteria. Birth/neonatal history: born at term by C-section with hypoxia; Apgar scores of 6 and 9 at 1 and 5 min, respectively; birth weight 3450 g (50th-80th %ile); suffered through a feeding disorder from birth and still continues to exhibit eating refusal and vomiting problems. Developmental milestones: general developmental delay; walking at 15 months; delayed speech, with first babbling at approximately 8 months of age. Lanaguge and communication evaluation: unable to consciously generate words. Behavioral/psychiatric evaluation: appeared to exhibit gaze avoidance and did not respond when his name was called; preferred to look at traffic lights and exit signs; continuously knocked the desk in the examination room with hands or other objects. EEG: normal. Brain imaging: unremarkable brain MRI. Dysmorphic features: mild hypertelorism, short mandible, protuberant forehead. Growth parameters: weight of 9.95 kg (10th-20th %ile) and height of 80.1 cm (20th-50th %ile) at 16 months of age. Family history: first child of healthy, non-consanguineous parents; mother showed no signs of developmental delay and scored within the normal range on the Broad Autism Phenotype Questionnaire (BAPQ) and Symptom Checklist-90 (SCL-90); no family history of developmental or psychiatric disorders, except for schizophrenia in maternal grandmother. Karyotype: 46,XY,inv(9)(p12q13).
 Cognitive and developmental evaluation using Bayley Scales of Infant Development-2 showed cognitive skills, language skills, and motor skills were well behind for his age (MDI <50; PDI=66)
 339002
 1026103
  687102
 GRCh38
 Duplication
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown147
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 52266
 1596828
  1544563
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-MM0068-003
 NA
 M
 ASD
 NA
 NA
 1704264
 1778550
  74287
 GRCh38
 Duplication
 Yes
  mercati_16_ASD_discovery_cases-probandAU-ANG-016
 N/A
 M
 ASD and ID
 Case presents with abnormal hypersensitivity to sound and abnormal motor coordination ability. Family history: father of proband (positive for 3p26.3/CNTN6 deletion) presents with ASD; brother of proband (positive for 3p26.3/CNTN6 deletion) presents with ASD, ID, and abnormal motor coordination ability.
 Intellectual disability
 815642
 1386951
  571310
 GRCh38
 Deletion
 No
  mercati_16_ASD_discovery_cases-probandAU-FRA-035
 13 yrs.
 F
 ASD
 Case diagnosed with ASD based on ADI-R and ADOS assessment at age of 6 years and meeting DSM-5 criteria. ADI-R evaluation results: social domain score of 23 (cut-off of 10); communication domain score of 18-12 (verbal cut-off of 8; nonverbal cut-off of 7); repetitive domain score of 4 (cut-off 3). ADOS evaluation results: communication domain score of 9 (cut-off of 5); social interaction domain score of 14 (cut-off of 6); total score of 23; interest and behaviors score of 1. Case presents with abnormal hypersensitivity to sound and abnormal motor coordination ability. Birth/neonatal history: normal course of pregnancy; dystocic delivery; APGAR scores of 9 and 10 at 1 and 10 min, respectively; brith height of 49 cm, weight of 2600 g, head circumference N/A. Developmental milestones: first symptoms of ASD at 18 months; walking at 14 months, first words at 14 months, first sentence at 40 months; developmental coordination disorder. Behavioral/psychiatric evaluation: single phobia. Ear/nose/throat evaluation: painful hyperacusis, auditory acuity tests within normal range, shortened wave I-V interpeak latency on auditory brainstem response test. Family history: 3p26.3/CNTN6 deletion inherited from father with ASD; 3p26.3/CNTN6 deletion not present in proband's brother affected with ASD and abnormal motor coordination ability.
 Full IQ score of 84 (Raven's Standard Progressive Matrices)
 1103565
 1740055
  636491
 GRCh38
 Deletion
 No
  mercati_16_ASD_discovery_cases-probandAU-RD-183
 13 yrs.
 M
 ASD
 Case diagnosed with ASD based on ADI-R assessment at age of 3 years and meeting DSM-5 criteria. ADI-R evaluation results: social domain score of 13 (cut-off of 10); communication domain score (nonverbal) of 11 (cut-off of 7); repetitive domain score of 4 (cut-off of 3). Case presents with abnormal hypersensitivity to sound and abnormal motor coordination ability. Birth/neonatal history: normal course of pregnancy; eutocic delivery; APGAR scores of 10 and 10 at 1 and 10 min, respectively; brith height of 51 cm, weight of 2960 g, head circumference of 33.5 cm. Developmental milestones: walking at 14 months; no functional langauge; developmental coordination disorder. Behavioral/psychiatric evaluation: ADHD. Ear/nose/throat evaluation: painful hyperacusis, auditory acuity tests within normal range, shortened wave I-V interpeak latency on auditory brainstem response test. Family history: 3p26.3/CNTN6 deletion inherited from unaffected father; mother with history of major depressive disorder (MDD) and anxiety disorder.
 Full IQ score of 96 (Wechsler)
 1103565
 1200412
  96848
 GRCh38
 Deletion
 No
  mercati_16_ASD_discovery_cases-probandAU-RD-192
 13 yrs.
 M
 ASD
 Case diagnosed with ASD based on ADI-R and ADOS assessment at age of 3 years and meeting DSM-5 criteria. ADI-R evaluation results: social domain score of 28 (cut-off of 10); communication domain score (nonverbal) of 11 (cut-off of 7); repetitive domain score of 4 (cut-off of 3). ADOS evaluation results: communication domain score of 7 (cut-off of 5); social interaction domain score of 7 (cut-off of 6); total score of 14. Case presents with abnormal hypersensitivity to sound and abnormal motor coordination ability. Birth/neonatal history: normal course of pregnancy; eutocic delivery; APGAR scores of 10 and 10 at 1 and 10 min, respectively; brith height of 51 cm, weight of 3500 g, head circumference of 36 cm. Developmental milestones: first symptoms of ASD at 18 months; walking at 13 months, first words at 24 months, first sentence at 54 months; developmental coordination disorder. Behavioral/psychiatric evaluation: ADHD. Ear/nose/throat evaluation: painful hyperacusis, auditory acuity tests within normal range, auditory brainstem response test within normal range. Family history: 3p26.3/CNTN6 deletion inherited from unaffected mother; deletion absent in unaffected father and unaffected female sibling.
 Full IQ score of 93 (Raven's Standard Progressive Matrices)
 1294453
 1327156
  32704
 GRCh38
 Deletion
 No
  monteiro_19_ASD_discovery_cases_case6
  NA NA
 10 yrs.
 F
 ASD and intellectual disability
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Dysmorphic features: present. Growth parameters: macrocephaly. Family history: 3p26.3 deletion inherited from healthy father.
 Intellectual disability
 32241
 278892
  246652
 GRCh38
 Deletion
 No
  mosca_16_DCD_discovery_cases-case125603
 N/A
 F
 DCD
 Ancestry: Chinese. Family history: maternal diagnosis unaffected; paternal diagnosis reading disorder.
 
 2211267
 2228884
  17618
 GRCh38
 Deletion
 Yes
  nava_13_ASD_discovery_cases-Fam1137Proband10782
 N/A
 M
 ASD
 Additional clinical profile info N/A
 No ID
 2305838
 2333858
  28021
 GRCh38
 Deletion
 No
  nava_13_ASD_discovery_cases-Fam1181Proband11386
 N/A
 N/A
 ASD
 Additional clinical profile info N/A
 ID
 1698040
 1772667
  74628
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam1295Proband11355
 N/A
 N/A
 ASD
 Additional clinical profile info N/A
 ID
 1689489
 1772667
  83179
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam755Proband8403
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 1424908
 1628617
  203710
 GRCh38
 Duplication
 No
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC39167
 N/A
 F
 DD/ID/MCA
 Database: Signature. Indication for study: Conditions due to anomaly of unspecified chromosome
 
 27274
 1171093
  1143820
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case1108_6
 NA
 F
 ASD
 NA
 NA
 1537586
 1680597
  143012
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5065_3
 NA
 M
 Autism
 Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted
 Below average nonverbal IQ (<1%ile)
 1703098
 1770268
  67171
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5081_4
 NA
 M
 ASD
 NA
 NA
 1074220
 1200412
  126193
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5146_4
 NA
 M
 ASD
 NA
 NA
 295862
 336386
  40525
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5241_3
 NA
 M
 Autism
 Average language (47%ile), no language delay, no epilepsy, right 2-3 toe syndactyly, right ear malformation
 Low nonverbal IQ (9%ile)
 447498
 1235193
  787696
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5267_3
 NA
 M
 Autism
 No language delay, no epilepsy, no dysmorphic features
 Average IQ
 3081642
 3167834
  86193
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5269_3
 NA
 M
 Autism
 Delayed language development but average language (53%ile), no epilepsy, no dysmorphic features
 Above average IQ
 2628024
 2859963
  231940
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5355_3
 NA
 M
 Autism
 No language delay, no epilepsy, integrative sensory dysfuncJon
 Average IQ
 1961820
 2134481
  172662
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5391_3
 NA
 M
 ASD
 NA
 NA
 1251658
 1290513
  38856
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5456_3
 NA
 M
 ASD
 NA
 NA
 40338
 91729
  51392
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case16095_1571145001
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 1680597
 1716405
  35809
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case4374_1
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 19366
 1616807
  1597442
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case102830
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 1972487
 2152634
  180148
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case143189
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 531341
 546467
  15127
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case155493L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 75872
 407038
  331167
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case60921
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 3096574
 3184571
  87998
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case60956
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 310149
 353820
  43672
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case88032
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 428860
 486503
  57644
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case88794
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 227164
 1489179
  1262016
 Unknown
 Duplication
 No
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH1
 11 days
 M
 Hypotonia and dysmorphic features
 Patient died at 11 days of age and presented with hypotonia, prominent forehead with bossing, low-set ears , flat nasal bridge, and hypertelorism. Family history: no family history of neurodevelopmental disorders.
 
 1126207
 1245818
  119612
 GRCh38
 Deletion
 No
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH2
 16 yrs.
 M
 Developmental delay
 Developmental milestones: developmental delay. Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: Scoliosis. Brain imaging: delayed myelination. Dysmorphic features: frontal narrowing, large ears with hypoplastic earlobes. Growth parameters: low weight, microcephaly. Family history: maternal half-brother with developmental delay, learning disabilities, and absent speech.
 
 815427
 1373035
  557609
 GRCh38
 Deletion
 No
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH3
 14 yrs.
 M
 ASD, developmental delay, and seizures
 Patient died at 16 years of age. Developmental milestones: developmental delay. Motor and muscloskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: ASD. Epilepsy/seizures: seizures. Growth parameters: failure to thrive. Family history: no family history of neurodevelopmental disorders.
 
 1348644
 1360376
  11733
 GRCh38
 Deletion
 No
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH4
 4 yrs.
 M
 ASD, developmental delay, and ADHD
 Developmental milestones: developmental delay. Behavioral/psychiatric evaluation: ASD, ADHD. Family history: mother with learning disability, maternal half-brother with ADHD, maternal half-sister with a history of learning disabilities, maternal aunt with learning disabilities.
 
 1097566
 1619436
  521871
 GRCh38
 Duplication
 Yes
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH5
 4 yrs.
 M
 Developmental delay and ADHD
 Developmental milestones: developmental delay. Behavioral/psychiatric evaluation: ADHD. Family history: no family history of neurodevelopmental disorders.
 
 656712
 1149890
  493179
 GRCh38
 Duplication
 No
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH6
 7 yrs.
 F
 MCA
 Additional medical history: renal failure. Family history: no family history of neurodevelopmental disorders.
 
 621943
 1101740
  479798
 GRCh38
 Duplication
 No
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH1
 12 yrs.
 M
 ASD and ADHD
 Behavioral/psychiatric evaluation: ASD, ADHD, pervasive developmental disorders, defiance. Growth parameters: poor weight gain, short stature. Family history: mother with anxiety and depression.
 
 838979
 1402542
  563564
 GRCh38
 Deletion
 Yes
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH10
 16 yrs.
 F
 ASD and Tourette syndrome
 Developmental milestones: developmental regression. Motor and musculoskeletal evaluation: progressive muscle weakness, dysarthria, ataxia, joint pain, joint hypermobility, scoliosis. Behavioral/psychiatric evaluation: ASD, Tourette syndrome. Additional medical history: HLA-B27-positive, mitral valve prolapse. Dysmorphic features: high forehead, wide face. Family history: parents are unaffected; paternal first cousin with ADHD and dyslexia, paternal aunt with ADHD, paternal great aunt with intellectual disability.
 
 838979
 1380600
  541622
 GRCh38
 Duplication
 Yes
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH11
 9 yrs.
 M
 Developmental delay, intellectual disability, and OCD
 Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: apraxia. Behavioral/psychiatric evaluation: OCD. Dysmorphic features: notched front teeth, prominent ears. Family history: paternal family members with bipolar disorder.
 Moderate intellectual disability
 1107602
 1270871
  163270
 GRCh38
 Duplication
 No
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH12
 5 mos.
 M
 MCA
 Additional medical history: pulmonary atresia with intact ventricular septum. Family history: mother with ADHD.
 
 1142342
 1418391
  276050
 GRCh38
 Duplication
 No
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH13
 6 yrs.
 M
 ASD, developmental delay, and ADHD
 Developmental milestones: developmental delay. Behavioral/psychiatric evaluation: ASD, ADHD. Additional medical history: Coffin-Lowry syndrome, hypopituitarism. Growth parameters: short stature, low weight. Family history: father with ADHD and learning disabilities.
 
 1082022
 1341825
  259804
 GRCh38
 Duplication
 No
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH2
 10 days
 F
 MCA
 Patient died at 18 days of age and presented with abnormal EEG following cardiogenic shock, oligohydramnios and renal insufficiency, tricuspid and pulmonary atresia, and hypoplastic right ventricle. Family history: father with Asperger syndrome, paternal great-great aunt and her child both with developmental delay and intellectual disability, and a maternal first cousins with epilepsy.
 
 1082022
 1201368
  119347
 GRCh38
 Deletion
 No
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH3
 13 yrs.
 F
 ASD
 Behavioral/psychiatric evaluation: ASD and generalized anxiety disorder. Family history: mother with anxiety and depression.
 
 711322
 1172724
  461403
 GRCh38
 Deletion
 No
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH4
 32 mos.
 M
 Developmental delay and ADHD
 Developmental milestones: developmental delay. Behavioral/psychiatric evaluation: ADHD, anxiety. Additional medical history: tetralogy of Fallot, pulmonary atresia, peripheral pulmonary artery stenosis, hypospadias. Family history: no family history of neurodevelopmental disorders.
 
 684960
 1126108
  441149
 GRCh38
 Duplication
 No
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH5
 5 yrs.
 F
 Developmental delay
 Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: hypotonia, short fourth and fifth toes. Additional medical history: atrial septal defect, ventricular septal defect, pulmonary valve and artery stenosis, congenital bronchomalacia, asthma. Dysmorphic features: hypertelorism, short and upslanting palpebral fissures, tall forehead, flat nasal bridge. Growth parameters: microcephaly. Family history: mother with bipolar disorder, ADHD, learning disabilities, dyslexia, seizures, and unilateral congenital hearing loss; father with learning disabilities, dyslexia, unilateral congenital hearing loss, stroke, and depression; paternal cousin with ADHD and learning disabilities; paternal uncle committed suicide; uncle with unilateral congenital hearing loss; maternal uncle with OCD, attention deficit disorder, depression, dyslexia, and unilateral congenital hearing loss; maternal first cousin with ADHD; maternal second cousin with seizures; maternal great aunt with schizophrenia.
 
 1305608
 1956063
  650456
 GRCh38
 Duplication
 Yes
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH6
 17 mos.
 F
 Developmental delay
 Developmental milestones: developmental delay. Family history: no family history of neurodevelopmental disorders.
 
 684960
 1126108
  441149
 GRCh38
 Duplication
 Yes
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH7
 60 yrs.
 F
 Intellectual disability and ADHD
 Behavioral/psychiatric evaluation: ADHD, depression. Additional medical history: Parkinson's disease. Family history: no family history of neurodevelopmental disorders.
 Intellectual disability
 1107602
 1270871
  163270
 GRCh38
 Duplication
 No
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH8
 21 mos.
 M
 Seizures and speech delay
 Developmental milestones: speech delay. Motor and musculoskeletal evaluation: 2-3 toe syndactyly, clinodactyly. Epilepsy/seizures: seizures. Family history: father with a history of childhood seizures and speech problems, sister with speech delay and seizures, paternal first cousin once removed with intellectual disability.
 
 680294
 1142466
  462173
 GRCh38
 Duplication
 No
  repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH9
 21 mos.
 M
 ASD
 Language and communication evaluation: mixed receptive-expressive language disorder. Behavioral/psychiatric evaluation: ASD. Family history: father with dyslexia, mother is unaffected.
 
 1107602
 1270871
  163270
 GRCh38
 Duplication
 Yes
  roohi_09_ASD_discovery_cases-subject1
 7 yr 9 mo
 M
 ASD
 Speech delay at 2 years, normal MRI and EEG at 3 years, ADOS scores of communication=3 and social=6 at 6 years, dysmorphic features. No seizures, regression, self-injurious behaviors, or auditory/visual deficits
 NA
 2003928
 2795025
  791097
 Unknown
 Duplication
 Yes
  roohi_09_ASD_discovery_cases-subject2B
 15 yr 11 mo
 M
 ASD
 Failed to develop speech until 4 years, developed seizures at 15 years, social deficits, no significant dysmorphism. No regression, self-injurious behaviors, or auditory/visual deficits,
 NA
 2205425
 2859375
  653950
 Unknown
 Deletion
 Yes
  roohi_09_ASD_discovery_cases-subject2C
 10 yr 11 mo
 F
 ASD
 Speech delay at 2 years, ADOS scores of communication=4 and social=6 at age 4, significant dysmorphic features. No regression, self-injurious behaviors, or auditory/visual deficits.
 NA
 2205425
 2859375
  653950
 Unknown
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case13744
 NA
 NA
 ASD
 NA
 NA
 46141
 343406
  297265
 Unknown
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case16123
 NA
 NA
 ASD
 NA
 NA
 1694496
 2228941
  534446
 GRCh38
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case20491
 NA
 NA
 ASD
 NA
 NA
 955368
 1785005
  829637
 Unknown
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-109
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: possible diagnosis. Seizures: N/A.
 Developmental delay: yes. Intellectual disability: Possibly mild.
 1051243
 1386951
  335709
 GRCh38
 Duplication
 No
  salyakina_11_ASD_discovery_cases-37994_001
 
 M
 Autism
 Delayed milestones: sitting, phrases, nonverbal. Seizures.
 
 40338
 87014
  46677
 GRCh38
 Duplication
 Yes
  salyakina_11_ASD_discovery_cases-37994_103
 
 M
 Autism
 Limited functional language, regression of social engagement at 28 months
 
 40338
 87014
  46677
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11001.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
 134585
 135633
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11041.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
 1871687
 1884167
  12481
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11057.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
 1662983
 1665829
  2847
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11096.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 95
 1740840
 1745897
  5058
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11131.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
 1740840
 1742201
  1362
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11131.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
 1643126
 1649406
  6281
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11158.p1
 10.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
 1876225
 1878453
  2229
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11167.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
 40338
 85994
  45657
 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
 65943
 110106
  44164
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11220.p1
 12.1
 F
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
 1162907
 1174934
  12028
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11220.p1
 12.1
 F
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
 1740840
 1745897
  5058
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11246.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
 1740840
 1745897
  5058
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11277.p1
 10.2
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
 844111
 1402559
  558449
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11294.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 79; verbal IQ 87
 255638
 317477
  61840
 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
 1740840
 1745897
  5058
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11441.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 119; verbal IQ, 126
 1740840
 1745897
  5058
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11475.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
 19366
 21733
  2368
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11526.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
 1740840
 1745897
  5058
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 949070
 955034
  5965
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11584.p1
 11.5
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 75; verbal IQ, 73
 40338
 91729
  51392
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11597.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
 853663
 906922
  53260
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11634.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 56; verbal IQ, 63
 3076016
 3081011
  4996
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11679.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
 1202750
 1988784
  786035
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11696.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
 1740840
 1745897
  5058
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11711.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
 1741650
 1745897
  4248
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11724.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
 1740840
 1745897
  5058
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11731.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 60
 1876225
 1878453
  2229
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11775.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
 2170634
 2238551
  67918
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11851.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 92; verbal IQ, 121
 528929
 1412012
  883084
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11855.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
 815642
 1385395
  569754
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11928.p1
 12.6
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
 1887982
 1919939
  31958
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11999.p1
 5.8
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
 528929
 568894
  39966
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11999.p1
 5.8
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
 623884
 1412012
  788129
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12130.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
 2582989
 2608189
  25201
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 1871687
 1884167
  12481
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 2969792
 2974430
  4639
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12201.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
 411856
 419080
  7225
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12260.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
 1871687
 1884167
  12481
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12335.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
 1740840
 1745897
  5058
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12355.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
 40338
 87014
  46677
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12447.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 60; verbal IQ, 45
 3058931
 3091458
  32528
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12456.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 40338
 78638
  38301
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12505.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
 1105517
 1986324
  880808
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12540.p1
 6.9
 F
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
 1876225
 1878453
  2229
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12596.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 89; verbal IQ, 32
 1947732
 1969657
  21926
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12624.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 47; verbal IQ, 27
 1797290
 1884421
  87132
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12638.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
 949070
 955034
  5965
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12652.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 79; verbal IQ, 69
 1571597
 1678376
  106780
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12715.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 109
 1074220
 1090040
  15821
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12805.p1
 8.5
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
 1741650
 1745897
  4248
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12964.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
 991351
 1004399
  13049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12976.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
 3311029
 3360544
  49516
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13056.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
 1874979
 1878453
  3475
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13072.p1
 15.5
 F
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
 2619991
 2720388
  100398
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13097.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
 3069363
 3069857
  495
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13251.p1
 7.7
 F
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
 1840507
 1920852
  80346
 GRCh38
 Deletion
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case21
 1 yr.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability
 
 2608141
 2619289
  11149
 GRCh38
 Duplication
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case7
 3 yrs.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
 
 2305500
 2686846
  381347
 GRCh38
 Deletion
 No
  tropeano_16_ASD/NDD_replication_cases-case26
 < 4 years
 M
 Developmental delay
 Developmental delay, Learning disability
 Learning disability
 2181030
 2497320
  316291
 GRCh38
 Deletion
 No
  van_daalen_11_ASD_discovery_cases-M3
 7 yrs. 2 mos.
 M
 ASD
 DSM-IV-TR classification: autistic disorder; ADOS-G classification: autistic disorder; ADI-R classification: autistic disorder. SRS score: 90. Family history of ASD and/or intellectual disability. Minor malformations & congenital anomalies. Family phenotypes: father's SRS score, 72; mother's SRS score, 91; brother1's SRS score, 90 (diagnosed with autistic disorder).
 WISC-III-NL scores: non-verbal cognitive score, 65; verbal cognitive score, 91.
 137844
 1271793
  1133950
 GRCh38
 Deletion
 Yes
  van_daalen_11_ASD_discovery_cases-S1
 6 yrs. 5 mos.
 M
 ASD
 DSM-IV-TR classification: autistic disorder; ADOS-G classification: autistic disorder; ADI-R classification: autistic disorder. SRS score: 90. Family history of ASD and/or intellectual disability. Facial dysmorphic features, minor malformations & congenital anomalies. Family phenotypes: father's SRS score, 21; mother's SRS score, 26; brother1's SRS score, 50; sister1's SRS score, 38.
 Mullen Scales of Early Learning (MSEL) cognitive score: 75
 795798
 1151145
  355348
 GRCh38
 Duplication
 Yes
  yuen_17_ASD_discovery_cases-case2-0132-004
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
 
 1070316
 1202316
  132001
 GRCh38
 Deletion
 No
  yuen_17_ASD_discovery_cases-caseAU039304
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 1044817
 1231316
  186500
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-caseAU4145303
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 337818
 2575816
  2237999
 GRCh38
 Duplication
 No
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0132-005
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 1069549
 1200575
  131027
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0040-003
  NA NA
 N/A
 F
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 2567533
 2621968
  54436
 GRCh38
 Duplication
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD125-896993
  NA NA
 N/A
 M
 OCD
 Primary diagnosis: OCD. Additional phenotype(s): no additional phenotypes reported
 
 881495
 2616383
  1734889
 GRCh38
 Duplication
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_controls-controlSSC03367
  N/A
  F
  Control
  Control from SSC_phase1 cohort
 
  2169609
  2238930
  69322
  GRCh38
  Deletion
  Yes
  engchuan_15_ASD_discovery_controls-control110036018174_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1703098
  1890780
  187683
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036020238_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1521760
  1680597
  158838
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB114549_1007853874
  N/A
  N/A
  Control
  No previous psychiatric history
 
  39037
  85994
  46958
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB140638_1007853950
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40338
  85994
  45657
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB253888_1007853986
  N/A
  N/A
  Control
  No previous psychiatric history
 
  970193
  1028355
  58163
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB295382_1007853936
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1776372
  1939883
  163512
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB299918_1007873981
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1037340
  1884421
  847082
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB313016_1007842089
  N/A
  N/A
  Control
  No previous psychiatric history
 
  295862
  528929
  233068
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB438466_1007853689
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40338
  1131968
  1091631
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB444871_1007853318
  N/A
  N/A
  Control
  No previous psychiatric history
 
  34643
  85994
  51352
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB459199_1007840471
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2170634
  2839891
  669258
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB483624_1007853685
  N/A
  N/A
  Control
  No previous psychiatric history
 
  72450
  298430
  225981
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB537495_1007853968
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40338
  85994
  45657
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB562526_1007875203
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1561426
  1677627
  116202
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB599274_1007848529
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1345754
  1401267
  55514
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB609802_1007875361
  N/A
  N/A
  Control
  No previous psychiatric history
 
  567883
  953070
  385188
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB647111_1007846512
  N/A
  N/A
  Control
  No previous psychiatric history
 
  842168
  1092761
  250594
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB650813_1007846518
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1846201
  1899676
  53476
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB653776_1007846516
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40338
  85994
  45657
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB746634_1007854026
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40338
  85994
  45657
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB763036_1007875774
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40338
  85994
  45657
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB779852_1007875214
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1593886
  1779529
  185644
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB782997_1007853703
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40338
  85994
  45657
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB825632_1007852635
  N/A
  N/A
  Control
  No previous psychiatric history
 
  815642
  1386951
  571310
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB855640_1007853300
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40338
  85994
  45657
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB868245_1007871688
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1763926
  1890780
  126855
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB917428_1007845364
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1406911
  2879831
  1472921
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB993989_1007854998
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1776372
  1939883
  163512
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900017_900017
  N/A
  N/A
  Control
  No previous psychiatric history
 
  900989
  978645
  77657
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900162_900162
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2938861
  3018817
  79957
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900295_900295
  N/A
  N/A
  Control
  No previous psychiatric history
 
  623884
  662965
  39082
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900361_900361
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1047863
  1107860
  59998
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900529_900529
  N/A
  N/A
  Control
  No previous psychiatric history
 
  380956
  512629
  131674
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900632_900632
  N/A
  N/A
  Control
  No previous psychiatric history
 
  47730
  200558
  152829
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900638_900638
  N/A
  N/A
  Control
  No previous psychiatric history
 
  195076
  245736
  50661
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900716_900716
  N/A
  N/A
  Control
  No previous psychiatric history
 
  614885
  1040314
  425430
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900758_900758
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1626804
  1773813
  147010
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900758_900758
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2239602
  2313984
  74383
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900818_900818
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40338
  85994
  45657
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901068_901068
  N/A
  N/A
  Control
  No previous psychiatric history
 
  277631
  1097957
  820327
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901101_901101
  N/A
  N/A
  Control
  No previous psychiatric history
 
  390057
  631664
  241608
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901236_901236
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2609211
  2978429
  369219
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902463_902463
  N/A
  N/A
  Control
  No previous psychiatric history
 
  3058931
  3089606
  30676
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902483_902483
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40338
  78638
  38301
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902674_902674
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53862
  87014
  33153
  GRCh38
  Duplication
  No
  glessner_09_ASD_discovery_controls-disccontrol12
  NA
 
  Control
  NA
  NA
  1898506
  1899238
  733
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1039
  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
 
  529666
  565961
  36296
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1054
  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
 
  1941360
  1949995
  8636
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1369
  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
 
  1782524
  1787581
  5058
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1976
  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
 
  1782524
  1787581
  5058
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split2081
  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
 
  2616290
  2624938
  8649
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split264
  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
 
  1941360
  1949995
  8636
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split860
  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
 
  1941360
  1949995
  8636
  Unknown
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11679.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  1220686
  2571558
  1350873
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11941.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  1295600
  1321834
  26235
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13645.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  390700
  405711
  15012
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14412.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  1148008
  1402486
  254479
  GRCh38
  Duplication
  Yes
  kushima_18_ASD/SCZ_discovery_controls-controlCON0200
  26 yrs.
  M
  Control
  This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
 
  2921004
  2934953
  13950
  GRCh38
  Deletion
  N/A
  kushima_18_ASD/SCZ_discovery_controls-controlCON0200
  26 yrs.
  M
  Control
  This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
 
  2298727
  2586365
  287639
  GRCh38
  Deletion
  N/A
  kushima_18_ASD/SCZ_discovery_controls-controlCON0606
  43 yrs.
  M
  Control
  This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
 
  1152235
  1312243
  160009
  GRCh38
  Deletion
  N/A
  kushima_18_ASD/SCZ_discovery_controls-controlCON2070
  18 yrs.
  M
  Control
  This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
 
  2328294
  2396671
  68378
  GRCh38
  Deletion
  N/A
  levy_11_ASD_discovery_controls-11106.s1
  NA
  M
  Control
  NA
  NA
  2170764
  2433363
  262600
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11928.s2
  NA
  M
  Control
  NA
  NA
  2410019
  2447977
  37959
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11999.s1
  NA
  F
  Control
  NA
  NA
  526265
  1414808
  888544
  GRCh38
  Duplication
  No
  mercati_16_ASD_discovery_controls-control10
  N/A
  N/A
  Control
  Control from SAGE + Hapmap3 (Pinto et al., 2010)
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  mercati_16_ASD_discovery_controls-control11
  N/A
  N/A
  Control
  Control from SAGE + Hapmap3 (Pinto et al., 2010)
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  mercati_16_ASD_discovery_controls-control12
  N/A
  N/A
  Control
  Control from HBAC
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  mercati_16_ASD_discovery_controls-control13
  N/A
  N/A
  Control
  Control from HBAC
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  mercati_16_ASD_discovery_controls-control14
  N/A
  N/A
  Control
  Control from HBAC
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  mercati_16_ASD_discovery_controls-control15
  N/A
  N/A
  Control
  Control from HBAC
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  mercati_16_ASD_discovery_controls-control16
  N/A
  N/A
  Control
  Control from KORA
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  mercati_16_ASD_discovery_controls-control17
  N/A
  N/A
  Control
  Control from KORA
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  mercati_16_ASD_discovery_controls-control5
  N/A
  N/A
  Control
  Control from KORA
 
  N/A
  N/A
  N/A
  GRCh37
  Deletion
  No
  mercati_16_ASD_discovery_controls-control6
  N/A
  N/A
  Control
  Control from this study
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  mercati_16_ASD_discovery_controls-control7
  N/A
  N/A
  Control
  Control from SAGE + Hapmap3 (Pinto et al., 2010)
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  mercati_16_ASD_discovery_controls-control8
  N/A
  N/A
  Control
  Control from SAGE + Hapmap3 (Pinto et al., 2010)
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  mercati_16_ASD_discovery_controls-control9
  N/A
  N/A
  Control
  Control from SAGE + Hapmap3 (Pinto et al., 2010)
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  nord_11_ASD_discovery_controls-04C27412
 
 
  Control
 
 
  818787
  1403591
  584805
  Unknown
  Duplication
 
  sanders_11_ASD_discovery_controls-11033.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  1876225
  1878453
  2229
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11041.s1
  15.7
  M
  Control (matched sibling)
  NA
  NA
  1871687
  1884167
  12481
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11051.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  2673075
  2720388
  47314
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11051.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  1740840
  1745897
  5058
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11106.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  2170634
  2431101
  260468
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11144.s1
  14
  F
  Control (matched sibling)
  NA
  NA
  40338
  85994
  45657
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11164.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  1740840
  1745897
  5058
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11263.s1
  15.9
  F
  Control (matched sibling)
  NA
  NA
  1103565
  1745897
  642333
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11274.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  1740840
  1745897
  5058
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11310.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  1740840
  1745897
  5058
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11318.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  1740840
  1745897
  5058
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11452.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  1740840
  1745897
  5058
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11455.s1
  8.9
  F
  Control (matched sibling)
  NA
  NA
  2528007
  2531847
  3841
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11584.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  39037
  85994
  46958
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11597.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  867062
  907662
  40601
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11630.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  1740840
  1745897
  5058
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11679.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  1202750
  1987145
  784396
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11720.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  1740840
  1745897
  5058
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11731.s1
  5.3
  F
  Control (matched sibling)
  NA
  NA
  1876225
  1878453
  2229
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11775.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  2170634
  2238551
  67918
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11897.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  40338
  87014
  46677
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11909.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  1074220
  1202750
  128531
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11928.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  1887982
  1919939
  31958
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11941.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  1286777
  1324656
  37880
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11999.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  528929
  1412012
  883084
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12007.s1
  10.9
  M
  Control (matched sibling)
  NA
  NA
  1740840
  1745897
  5058
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  991351
  1004399
  13049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12130.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  2582989
  2609211
  26223
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  1871687
  1884167
  12481
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  2969792
  2974430
  4639
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12189.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  1245120
  1259136
  14017
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12235.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  1740840
  1745897
  5058
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12331.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  921698
  930428
  8731
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12424.s1
  6.2
  F
  Control (matched sibling)
  NA
  NA
  411856
  419080
  7225
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12438.s1
  6.4
  M
  Control (matched sibling)
  NA
  NA
  1876225
  1878453
  2229
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12462.s1
  20.8
  F
  Control (matched sibling)
  NA
  NA
  1740840
  1745897
  5058
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12540.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  1876225
  1878453
  2229
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13035.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  1740840
  1742201
  1362
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13162.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  40338
  87014
  46677
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13251.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  1840507
  1920852
  80346
  GRCh38
  Deletion
  No
  wang_10_ASD_discovery_controls-Aut46
  36
  F
  Control
  NA
  NA
  170062
  1296575
  1126514
  GRCh38
  Duplication
  No
  wang_10_ASD_discovery_controls-Aut99
  14
  M
  Control
  NA
  NA
  40338
  1105517
  1065180
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 bitar_19_ASD_discovery_cases-case92
 qPCR
 
 Maternal
 
 
 RNU6-1194P,RPS8P6,RPSAP32,CHL1-AS1,CHL1-AS2,CHL1,LINC01266
 
 brandler_18_ASD_discovery_cases-caseSSC03348
 PCR or SNP data validation
 
 Paternal
 
 
 CNTN4
 
 brandler_18_ASD_discovery_cases-caseSSC11369
 PCR or SNP data validation
 
 Paternal
 
 
 CNTN4
 
 brandler_18_ASD_replication_cases-case1-0125-003
 No validation step reported
 
 Maternal
 
 
 CNTN4
 
 brandler_18_ASD_replication_cases-case1-0804-003
 No validation step reported
 
 Maternal
 
 
 CNTN4
 
 chilian_13_DD/ID_discovery_cases-case1
 
 
 Unknown
 Possibly simplex (no info on 1st child)
 Unknown
 
 
 christian_08_ASD_discovery_cases-AU066005
 FISH, microsatellite
 
 inherited
 Multiplex
 NA
 HINT2P1,CNTN4
 
 cottrell_11_ASD_discovery_cases-probandA154
 FISH
 
 Maternal
 Partial multiplex (sibling with mixed language disorder, but not ASD)
 Segregated
 RPL23AP39,RPL21P17,RN7SKP144,CNTN4-AS2,CNTN4
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300203
 qPCR
 
 Paternal
 
 
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CHL1,LINC01266,CNTN6,CNTN4
 
 engchuan_15_ASD_discovery_cases-case1108_6
 
 
 Unknown
 
 
 RPL23AP38
 
 engchuan_15_ASD_discovery_cases-case13035_443
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14121_2140
 
 
 Unknown
 
 
 LINC01266
 
 engchuan_15_ASD_discovery_cases-case14151_2500
 
 
 Unknown
 
 
 LINC01986,CHL1-AS2,CHL1
 
 engchuan_15_ASD_discovery_cases-case14281_4040
 
 
 Unknown
 
 
 HINT2P1,CNTN4
 
 engchuan_15_ASD_discovery_cases-case14364_4780
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14387_4960
 
 
 Unknown
 
 
 CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,CNTN4-AS2,CNTN6,CNTN4
 
 engchuan_15_ASD_discovery_cases-case16059_1571075001
 
 
 Unknown
 
 
 CHL1
 
 engchuan_15_ASD_discovery_cases-case16095_1571145001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case17035_1
 
 
 Unknown
 
 
 RNU6-1194P,RPS8P6,CHL1-AS1,CHL1
 
 engchuan_15_ASD_discovery_cases-case20070_1331001
 
 
 Unknown
 
 
 RPL21P17
 
 engchuan_15_ASD_discovery_cases-case3085_3
 
 
 Unknown
 
 
 LINC01986,CHL1-AS2,CHL1
 
 engchuan_15_ASD_discovery_cases-case3147_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3614_3
 
 
 Unknown
 
 
 CNTN4
 
 engchuan_15_ASD_discovery_cases-case4374_1
 
 
 Unknown
 
 
 LINC01986,RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
 
 engchuan_15_ASD_discovery_cases-case4386_1
 
 
 Unknown
 
 
 DNAJC19P4,CNTN4-AS1,IL5RA,CNTN4
 
 engchuan_15_ASD_discovery_cases-case4386_1
 
 
 Unknown
 
 
 RN7SL120P,CRB3P1,CNTN6
 
 engchuan_15_ASD_discovery_cases-case5065_3
 
 
 Unknown
 
 
 RPL23AP39
 
 engchuan_15_ASD_discovery_cases-case5081_4
 
 
 Unknown
 
 
 CNTN6
 
 engchuan_15_ASD_discovery_cases-case5146_4
 
 
 Unknown
 
 
 RPS8P6,CHL1
 
 engchuan_15_ASD_discovery_cases-case5241_3
 
 
 Unknown
 
 
 RPSAP32,RN7SL120P,LINC01266,CNTN6
 
 engchuan_15_ASD_discovery_cases-case5267_3
 
 
 Unknown
 
 
 IL5RA,TRNT1,CRBN
 
 engchuan_15_ASD_discovery_cases-case5269_3
 
 
 Unknown
 
 
 CNTN4
 
 engchuan_15_ASD_discovery_cases-case5312_3
 
 
 Unknown
 
 
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,CHL1-AS1,CHL1,LINC01266,CNTN6
 
 engchuan_15_ASD_discovery_cases-case5355_3
 
 
 Unknown
 
 
 RN7SKP144,CNTN4-AS2,CNTN4
 
 engchuan_15_ASD_discovery_cases-case5391_3
 
 
 Unknown
 
 
 CNTN6
 
 engchuan_15_ASD_discovery_cases-case5456_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6037_5
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6319_3
 
 
 Unknown
 
 
 CNTN4
 
 engchuan_15_ASD_discovery_cases-case8007_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8452_201
 
 
 Unknown
 
 
 RN7SL120P,LINC01266,CNTN6
 
 feliciano_19_ASD_discovery_cases-caseSP0028854
 
 
 Paternal
 Simplex
 
 CRB3P1,CNTN6
 null
 fry_16_DD/ID/EP/ASD_discovery_cases-caseR981
 
 
 Unknown
 
 
 RN7SL120P,LINC01266,CNTN6
 
 gai_11_ASD_discovery_cases-AU1070302
 qPCR
 
 Inherited
 
 
 CNTN4
 
 gai_11_ASD_discovery_cases-AU1156301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1916302
 
 
 Inherited
 
 
 CNTN6
 
 gai_11_ASD_discovery_cases-AU1916302
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU025503
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU025506
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU036404
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU038004
 
 
 Inherited
 
 
 CNTN6
 
 gai_11_ASD_replication_cases-AU044004
 
 
 Inherited
 
 
 CNTN6
 
 gai_11_ASD_replication_cases-AU066004
 qPCR
 
 Inherited
 
 
 CNTN4
 
 gai_11_ASD_replication_cases-AU066005
 qPCR
 
 Inherited
 
 
 CNTN4
 
 gai_11_ASD_replication_cases-AU0920302
 
 
 Inherited
 
 
 CNTN6
 
 gazzellone_14_ASD_discovery_cases-case523-3
 
 
 Unknown
 Unknown
 Unknown
 CHL1
 
 gazzellone_14_ASD_discovery_cases-case608-3
 
 
 Unknown
 Unknown
 Unknown
 HINT2P1,CNTN4
 
 girirajan_11_ASD_discovery_cases-Si193
 
 
 Unknown
 Simplex
 
 CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,CNTN6
 
 girirajan_13a_ASD_discovery_cases-11851.p1
 
 
 Unknown
 Simplex
 Unknown
 RPSAP32,RN7SL120P,CRB3P1,LINC01266,CNTN6
 
 girirajan_13a_ASD_discovery_cases-11999.p1
 
 
 Unknown
 Simplex
 Unknown
 RPSAP32,RN7SL120P,CRB3P1,LINC01266,CNTN6
 
 girirajan_13a_ASD_discovery_cases-12940.p1
 
 
 Unknown
 Simplex
 Unknown
 HINT2P1,CNTN4
 
 girirajan_13a_ASD_discovery_cases-13739.p1
 
 
 Unknown
 Simplex
 Unknown
 HINT2P1,CNTN4
 
 girirajan_13a_ASD_discovery_cases-13783.p1
 
 
 Unknown
 Simplex
 Unknown
 RN7SL120P,CRB3P1,CNTN6
 
 girirajan_13a_ASD_discovery_cases-13845.p1
 
 
 Unknown
 Simplex
 Unknown
 RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
 
 girirajan_13a_ASD_discovery_cases-13949.p1
 
 
 Unknown
 Simplex
 Unknown
 RN7SKP144,CNTN4-AS2,CNTN4
 
 girirajan_13a_ASD_discovery_cases-13988.p1
 
 
 Unknown
 Simplex
 Unknown
 RNU6-1194P,RPS8P6,CHL1-AS2,CHL1-AS1,CHL1
 
 girirajan_13a_ASD_discovery_cases-14018.p1
 
 
 Unknown
 Simplex
 Unknown
 HINT2P1,CNTN4
 
 girirajan_13a_ASD_discovery_cases-AU020103
 
 
 Unknown
 Multiplex
 Unknown
 CRB3P1,CNTN6
 
 girirajan_13a_ASD_discovery_cases-AU082505
 
 
 Unknown
 Multiplex
 Unknown
 HINT2P1,CNTN4
 
 girirajan_13a_ASD_discovery_cases-AU1765302
 
 
 Unknown
 Multiplex
 Unknown
 RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,CNTN4-AS2,CNTN6,CNTN4
 
 glessner_09_ASD_discovery_cases-12989_64063
 qPCR
 
 Unknown
 Unknown
 NA
 
 
 glessner_09_ASD_discovery_cases-2261786327
 qPCR
 
 Unknown
 Unknown
 NA
 
 
 glessner_09_ASD_discovery_cases-AU01303
 qPCR
 
 Unknown
 Unknown
 NA
 
 
 glessner_09_ASD_discovery_cases-Owely_E016
 qPCR
 
 Unknown
 Unknown
 NA
 CNTN4
 
 glessner_09_ASD_replication_cases-AU018003
 qPCR
 
 Unknown
 Unknown
 NA
 
 
 glessner_09_ASD_replication_cases-AU018004
 qPCR
 
 Unknown
 Unknown
 NA
 
 
 glessner_09_ASD_replication_cases-AU036403
 qPCR
 
 Unknown
 Unknown
 NA
 
 
 glessner_09_ASD_replication_cases-AU036404
 qPCR
 
 Unknown
 Unknown
 NA
 
 
 glessner_09_ASD_replication_cases-AU077105
 qPCR
 
 Unknown
 Unknown
 NA
 CNTN4
 
 glessner_09_ASD_replication_cases-AU082803
 qPCR
 
 Unknown
 Unknown
 NA
 CNTN4
 
 glessner_09_ASD_replication_cases-AU0913301
 qPCR
 
 Unknown
 Unknown
 NA
 CNTN4
 
 glessner_09_ASD_replication_cases-AU0913302
 qPCR
 
 Unknown
 Unknown
 NA
 CNTN4
 
 glessner_09_ASD_replication_cases-AU1070302
 qPCR
 
 Unknown
 Unknown
 NA
 CNTN4
 
 glessner_09_ASD_replication_cases-AU1135202
 qPCR
 
 Unknown
 Unknown
 NA
 
 
 glessner_09_ASD_replication_cases-AU1407301
 qPCR
 
 Unknown
 Unknown
 NA
 CNTN4
 
 glessner_09_ASD_replication_cases-AU1427302
 qPCR
 
 Unknown
 Unknown
 NA
 CNTN4
 
 glessner_09_ASD_replication_cases-AU1427303
 qPCR
 
 Unknown
 Unknown
 NA
 CNTN4
 
 glessner_09_ASD_replication_cases-AU1601301
 qPCR
 
 Unknown
 Unknown
 NA
 
 
 glessner_09_ASD_replication_cases-AU1601302
 qPCR
 
 Unknown
 Unknown
 NA
 
 
 griswold_12_ASD_discovery_cases-case18011
 qPCR
 
 Paternal
 Simplex
 Segregated
 LINC01986,RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
 
 guo_12_ASD_discovery_cases-case1
 qPCR
 
 Unknown
 Simplex
 Unknown
 CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN6,CNTN4
 
 guo_12_ASD_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown
 CNTN6
 
 guo_17_ASD_discovery_cases-caseM8560
 qPCR
 
 Unknown
 
 
 CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN6,CNTN4
 
 guo_18_ASD/DD/ID_discovery_cases-caseBK-204-03
 aCGH, Sanger sequencing
 
 Paternal
 Simplex
 Unknown
 RN7SL120P,CNTN6
 
 hnoonual_17_ASD_discovery_cases-caseTM4-3
 
 
 De novo
 
 
 CHL1-AS2,CHL1
 
 hu_15_ASD/DD/ID/EP_discovery_cases-case1
 
 
 Unknown
 Multi-generational
 Unknown
 RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,LINC01266,CNTN6
 
 hu_15_ASD/DD/ID/EP_discovery_cases-case10
 
 
 Unknown
 Multi-generational
 Unknown
 CNTN6
 
 hu_15_ASD/DD/ID/EP_discovery_cases-case11
 FISH
 
 Paternal
 Multi-generational
 Unknown
 CRB3P1,RPL23AP38,CNTN6
 
 hu_15_ASD/DD/ID/EP_discovery_cases-case12
 
 
 Unknown
 Multi-generational
 Unknown
 CRB3P1,CNTN6
 
 hu_15_ASD/DD/ID/EP_discovery_cases-case13
 FISH
 
 Maternal
 Multi-generational
 Unknown
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS1,CHL1,LINC01266,CNTN6
 
 hu_15_ASD/DD/ID/EP_discovery_cases-case14
 
 
 Unknown
 Multi-generational
 Unknown
 RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CHL1,LINC01266,CNTN6,CNTN4
 
 hu_15_ASD/DD/ID/EP_discovery_cases-case2
 
 
 Unknown
 Multi-generational
 Unknown
 RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,CNTN6
 
 hu_15_ASD/DD/ID/EP_discovery_cases-case3
 
 
 Unknown
 Multi-generational
 Unknown
 CNTN6
 
 hu_15_ASD/DD/ID/EP_discovery_cases-case4
 
 
 Unknown
 Multi-generational
 Unknown
 CNTN6
 
 hu_15_ASD/DD/ID/EP_discovery_cases-case5
 
 
 Unknown
 Unknown
 Unknown
 CNTN6
 
 hu_15_ASD/DD/ID/EP_discovery_cases-case6
 FISH
 
 Paternal
 Multiplex
 Segregated
 CRB3P1,CNTN6
 
 hu_15_ASD/DD/ID/EP_discovery_cases-case7
 
 
 Unknown
 Simplex
 Unknown
 CRB3P1,CNTN6
 
 hu_15_ASD/DD/ID/EP_discovery_cases-case8
 FISH
 
 Maternal
 Multi-generational
 Unknown
 RPSAP32,RN7SL120P,LINC01266,CNTN6
 
 hu_15_ASD/DD/ID/EP_discovery_cases-case9
 
 
 Unknown
 Multi-generational
 Unknown
 RN7SL120P,LINC01266,CNTN6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000038
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CHL1-AS2,CHL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000128
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 HINT2P1,CNTN4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000781
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000894
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL120P,CNTN6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000954
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HINT2P1,CNTN4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001041
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001259
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,CNTN6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001652
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RNU6-1194P,RPS8P6,RPSAP32,CHL1-AS2,CHL1-AS1,CHL1,LINC01266
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001671
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS1,CHL1,LINC01266,CNTN6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001714
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 LINC01986,RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002249
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS1,CHL1,LINC01266,CNTN6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002283
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002436
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-1194P,RPS8P6,CHL1-AS2,CHL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002521
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CNTN4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003942
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003996
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004050
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RN7SL120P,CNTN6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004392
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,CNTN6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004528
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RPS8P6,RPSAP32,RN7SL120P,CRB3P1,CHL1-AS1,CHL1,LINC01266,CNTN6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004673
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 HINT2P1,DNAJC19P4,CNTN4-AS1,IL5RA,CNTN4,TRNT1,CRBN
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004764
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HINT2P1,CNTN4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004893
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004952
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RN7SL120P,CNTN6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005296
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005327
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL120P,LINC01266,CNTN6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005354
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 CRB3P1,CNTN6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005368
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN6,CNTN4
 
 kanduri_15_ASD_discovery_cases-case3021
 
 
 Paternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, CHL1(dist=117958)
 
 kashevarova_14_ASD/ID_discovery_cases-caseF_II-4
 RT-PCR
 
 Unknown
 Multiplex
 Unknown
 CRB3P1,CNTN6
 
 kashevarova_14_ASD/ID_discovery_cases-caseF_II-5
 RT-PCR
 
 Unknown
 Multiplex
 Unknown
 CRB3P1,CNTN6
 
 kashevarova_14_ASD/ID_discovery_cases-caseK_III-1
 RT-PCR
 
 Paternal
 Simplex
 Not segregated
 RN7SL120P,CRB3P1,LINC01266,CNTN6
 
 kashevarova_14_ASD/ID_discovery_cases-caseN_II-1
 RT-PCR
 
 Paternal
 Simplex
 Not segregated
 CRB3P1,RPL23AP38,CNTN6
 
 krumm_15_ASD_discovery_cases-case11679.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CRB3P1,CNTN6
 
 krumm_15_ASD_discovery_cases-case11851.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 CRB3P1,CNTN6
 
 krumm_15_ASD_discovery_cases-case11855.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 CNTN6
 
 krumm_15_ASD_discovery_cases-case12505.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 CRB3P1,CNTN6
 
 krumm_15_ASD_discovery_cases-case12783.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 CNTN6
 
 krumm_15_ASD_discovery_cases-case13645.p1
 1M-Duov3
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CHL1
 
 krumm_15_ASD_discovery_cases-case13739.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 CNTN4
 
 krumm_15_ASD_discovery_cases-case13783.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 CRB3P1,CNTN6
 
 krumm_15_ASD_discovery_cases-case14018.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 CNTN4
 
 krumm_15_ASD_discovery_cases-case14196.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 CNTN6
 
 krumm_15_ASD_discovery_cases-case14412.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CRB3P1,CNTN6
 
 kushima_18_ASD_discovery_cases-caseASD0146
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 De novo
 Not simplex
 Not segregated
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CHL1,LINC01266,CNTN6,CNTN4
 
 kushima_18_ASD_discovery_cases-caseASD0210
 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
 CNTN6
 
 kushima_18_ASD_discovery_cases-caseASD0215
 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
 Simplex
 Unknown
 CNTN6
 
 kushima_18_ASD_discovery_cases-caseASD0733
 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
 Simplex
 Unknown
 CNTN6
 
 kushima_18_ASD_discovery_cases-caseASD0943
 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
 CNTN6
 
 kushima_18_SCZ_discovery_cases-caseSCZ0029
 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
 Unknown
 Unknown
 CNTN6
 
 leblond_12_ASD_replication_cases-Pintocase6319_3
 
 
 Maternal
 
 
 CNTN4
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case3
 
 
 Unknown
 
 
 CHL1
 
 leppa_16_ASD_discovery_cases-AU1765302
 
 
 Paternal
 Multiplex
 Not segregated (CNV not reported in affected sibling)
 RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,CNTN4-AS2,CNTN6,CNTN4
 
 lesca_12_EP_discovery_cases-caseDY34
 qPCR
 
 Maternal
 Unknown
 Unknown
 CNTN6
 
 lesca_12_EP_discovery_cases-caseED15
 
 
 Unknown
 Unknown
 Unknown
 LINC01266
 
 levy_11_ASD_discovery_cases-11999.p1
 
 
 Paternal
 Simplex
 Not segregated
 RPSAP32,RN7SL120P,CRB3P1,LINC01266,CNTN6
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
 
 
 Unknown
 
 
 LINC01266
 
 li_16_ASD/DD_discovery_cases-case1
 qPCR
 
 Maternal
 
 Unknown
 RPSAP32,CHL1-AS1,CHL1,LINC01266
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown147
 
 
 Maternal
 Unknown
 Unknown
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
 
 marshall_08_ASD_discovery_cases-MM0068-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 RPL23AP39
 
 mercati_16_ASD_discovery_cases-probandAU-ANG-016
 CNV validation not reported
 Paternal
 Paternal
 Multi-generational
 Segregated
 RN7SL120P,LINC01266,CNTN6
 
 mercati_16_ASD_discovery_cases-probandAU-FRA-035
 CNV validation not reported
 Paternal
 Paternal
 Multi-generational
 Not segregated
 CRB3P1,RPL23AP38,RPL23AP39,CNTN6
 
 mercati_16_ASD_discovery_cases-probandAU-RD-183
 CNV validation not reported
 
 Paternal
 Simplex
 Unknown
 CNTN6
 
 mercati_16_ASD_discovery_cases-probandAU-RD-192
 CNV validation not reported
 
 Maternal
 Simplex
 Unknown
 CNTN6
 
 monteiro_19_ASD_discovery_cases_case6
 
 
 Paternal
 
 
 CHL1-AS2,CHL1
 
 mosca_16_DCD_discovery_cases-case125603
 qPCR
 
 Unknown (paternal DNA not available)
 Multi-generational
 Unknown
 CNTN4
 
 nava_13_ASD_discovery_cases-Fam1137Proband10782
 
 
 Unknown
 Simplex
 Unknown
 CNTN4
 
 nava_13_ASD_discovery_cases-Fam1181Proband11386
 
 
 Unknown
 Unknown
 Unknown
 RPL23AP39
 
 nava_13_ASD_discovery_cases-Fam1295Proband11355
 
 
 Unknown, present in affected brother
 Multiplex
 Segregated
 RPL23AP39
 
 nava_13_ASD_discovery_cases-Fam755Proband8403
 
 
 Maternal
 Simplex
 Unknown
 RPL23AP38
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC39167
 FISH
 
 Unknown
 Unknown
 Unknown
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
 
 pinto_10_ASD_discovery_cases-case1108_6
 Illumina550;Affy5.0
 
 maternal
 NA
 NA
 RPL23AP38
 
 pinto_10_ASD_discovery_cases-case5065_3
 Agilent1M
 
 paternal
 Multiplex
 Unknown
 RPL23AP39
 
 pinto_10_ASD_discovery_cases-case5081_4
 Agilent1M
 
 maternal
 NA
 NA
 CNTN6
 
 pinto_10_ASD_discovery_cases-case5146_4
 Agilent1M
 
 paternal
 NA
 NA
 RPS8P6,CHL1
 
 pinto_10_ASD_discovery_cases-case5241_3
 Agilent1M
 
 paternal
 Multiplex
 NA
 RPSAP32,RN7SL120P,LINC01266,CNTN6
 
 pinto_10_ASD_discovery_cases-case5267_3
 qPCR-Paternal,Agilent1M
 
 paternal
 Simplex
 NA
 IL5RA,TRNT1,CRBN
 
 pinto_10_ASD_discovery_cases-case5269_3
 qPCR-Paternal
 
 paternal
 Simplex
 NA
 CNTN4
 
 pinto_10_ASD_discovery_cases-case5355_3
 qPCR-Maternal
 
 maternal
 Simplex
 NA
 RN7SKP144,CNTN4-AS2,CNTN4
 
 pinto_10_ASD_discovery_cases-case5391_3
 Agilent1M
 
 maternal
 NA
 NA
 CNTN6
 
 pinto_10_ASD_discovery_cases-case5456_3
 Agilent1M
 
 paternal
 NA
 NA
 
 
 pinto_14_ASD_discovery_cases2-case16095_1571145001
 qPCR
 
 Maternal
 Simplex
 (not tested)
 
 
 pinto_14_ASD_discovery_cases2-case4374_1
 qPCR (Griswold et al. 2011, PMID: 21360829)
 
 Paternal
 Simplex
 (not tested)
 LINC01986,RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
 
 prasad_12_ASD_discovery_cases-case102830
 
 
 Unknown
 Unknown
 Unknown
 CNTN4
 
 prasad_12_ASD_discovery_cases-case143189
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case155493L
 
 
 Unknown
 Unknown
 Unknown
 CHL1
 
 prasad_12_ASD_discovery_cases-case60921
 
 
 Unknown
 Unknown
 Unknown
 IL5RA,CRBN,TRNT1
 
 prasad_12_ASD_discovery_cases-case60956
 
 
 Unknown
 Unknown
 Unknown
 CHL1
 
 prasad_12_ASD_discovery_cases-case88032
 
 
 Unknown
 Simplex
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case88794
 
 
 Unknown
 Unknown
 Unknown
 CHL1,CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH1
 
 
 Unknown
 Simplex
 Unknown
 CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH2
 
 
 Unknown
 Multiplex
 Unknown
 RN7SL120P,LINC01266,CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH3
 
 
 Unknown
 Simplex
 Unknown
 CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH4
 qPCR
 
 Maternal
 Multi-generational
 
 CRB3P1,RPL23AP38,CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH5
 
 
 Unknown
 Simplex
 Unknown
 RN7SL120P,LINC01266,CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseCMH6
 
 
 Unknown
 Simplex
 Unknown
 RN7SL120P,LINC01266,CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH1
 FISH
 
 Maternal
 Multi-generational
 
 RN7SL120P,CRB3P1,LINC01266,CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH10
 FISH
 
 Paternal
 Multi-generational
 Unknown
 RN7SL120P,LINC01266,CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH11
 
 
 Unknown
 
 Unknown
 CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH12
 
 
 Unknown
 
 Unknown
 CRB3P1,CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH13
 
 
 Unknown (not maternal)
 Multi-generational
 Unknown
 CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH2
 
 
 Unknown
 Multi-generational
 Unknown
 CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH3
 
 
 Unknown
 Multi-generational
 Unknown
 RN7SL120P,LINC01266,CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH4
 
 
 Unknown
 Simplex
 
 RN7SL120P,LINC01266,CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH5
 FISH
 
 Maternal
 Mutli-generational
 
 CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH6
 FISH
 
 Maternal
 Simplex
 Not segregated
 RN7SL120P,LINC01266,CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH7
 
 
 Unknown
 Simplex
 Unknown
 CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH8
 
 
 Unknown
 Multi-generational
 Unknown
 RN7SL120P,LINC01266,CNTN6
 
 repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH9
 FISH
 
 Maternal
 
 Not segregated
 CNTN6
 
 roohi_09_ASD_discovery_cases-subject1
 FISH
 
 Paternal
 Simplex
 NA
 CNTN4
 
 roohi_09_ASD_discovery_cases-subject2B
 FISH
 
 Paternal
 Multiplex
 Not segregated
 CNTN4
 
 roohi_09_ASD_discovery_cases-subject2C
 FISH
 
 Paternal
 Multiplex
 Not segregated
 CNTN4
 
 rosenfeld_10_ASD_discovery_cases-case13744
 FISH
 
 Unknown
 Unknown
 Unknown
 CHL1
 
 rosenfeld_10_ASD_discovery_cases-case16123
 FISH
 
 Maternal
 Unknown
 Unknown
 RPL23AP39,RPL21P17,RN7SKP144,CNTN4-AS2,CNTN4
 
 rosenfeld_10_ASD_discovery_cases-case20491
 FISH
 
 Maternal
 Unknown
 Unknown
 CNTN6
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-109
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 RN7SL120P,CNTN6
 
 salyakina_11_ASD_discovery_cases-37994_001
 qPCR
 
 Maternal
 Simplex
 Not segregated
 
 
 salyakina_11_ASD_discovery_cases-37994_103
 qPCR
 
 Maternal
 Simplex
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11001.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11041.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11057.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11096.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11131.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11131.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11158.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11167.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11196.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11220.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CNTN6
 
 sanders_11_ASD_discovery_cases-11220.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11246.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11277.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RN7SL120P,CRB3P1,LINC01266,CNTN6
 
 sanders_11_ASD_discovery_cases-11294.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RNU6-1194P,RPS8P6,CHL1
 
 sanders_11_ASD_discovery_cases-11336.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11441.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11475.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11526.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11584.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11597.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11634.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 IL5RA
 
 sanders_11_ASD_discovery_cases-11679.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,CNTN6
 
 sanders_11_ASD_discovery_cases-11696.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11711.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11724.p1
 
 
 Maternal
 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-11775.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CNTN4
 
 sanders_11_ASD_discovery_cases-11851.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RPSAP32,RN7SL120P,CRB3P1,LINC01266,CNTN6
 
 sanders_11_ASD_discovery_cases-11855.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RN7SL120P,LINC01266,CNTN6
 
 sanders_11_ASD_discovery_cases-11928.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RPL21P17
 
 sanders_11_ASD_discovery_cases-11999.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01266
 
 sanders_11_ASD_discovery_cases-11999.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RN7SL120P,CRB3P1,LINC01266,CNTN6
 
 sanders_11_ASD_discovery_cases-12130.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CNTN4
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CNTN4
 
 sanders_11_ASD_discovery_cases-12201.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12260.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12335.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12355.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12447.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CNTN4-AS1,IL5RA
 
 sanders_11_ASD_discovery_cases-12456.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12505.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,CNTN6
 
 sanders_11_ASD_discovery_cases-12540.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12596.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12624.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12638.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12652.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RPL23AP38
 
 sanders_11_ASD_discovery_cases-12715.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12805.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12964.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12976.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13056.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13072.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CNTN4
 
 sanders_11_ASD_discovery_cases-13097.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 IL5RA
 
 sanders_11_ASD_discovery_cases-13251.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RPL21P17
 
 sansovic_17_DD/ID/ASD_discovery_cases-case21
 
 
 Unknown
 
 
 CNTN4
 
 sansovic_17_DD/ID/ASD_discovery_cases-case7
 
 
 Maternal
 
 
 HINT2P1,CNTN4
 
 tropeano_16_ASD/NDD_replication_cases-case26
 
 
 Unknown
 Unknown
 Unknown
 HINT2P1,CNTN4
 
 van_daalen_11_ASD_discovery_cases-M3
 Inheritance
 
 Maternal
 Multiplex
 Not segregated
 RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
 
 van_daalen_11_ASD_discovery_cases-S1
 Inheritance
 
 De novo
 Simplex
 NA
 RN7SL120P,LINC01266,CNTN6
 
 yuen_17_ASD_discovery_cases-case2-0132-004
 CNV not detected by WGS, identified via Illumina1M
 
 Maternal
 Multiplex
 Not segregated
 CNTN6
 
 yuen_17_ASD_discovery_cases-caseAU039304
 Not available
 
 Paternal
 Multiplex
 Not segregated
 RN7SL120P,CNTN6
 
 yuen_17_ASD_discovery_cases-caseAU4145303
 Not available
 
 Paternal
 Multiplex
 Not segregated
 RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CHL1-AS1,CNTN4-AS2,CHL1,LINC01266,CNTN6,CNTN4
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0132-005
 RT-qPCR or WGS
 
 Unknown
 
 
 CNTN6
 null
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0040-003
 RT-qPCR or WGS
 
 Maternal
 
 
 CNTN4
 null
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD125-896993
 RT-qPCR or WGS
 
 Paternal
 
 
 RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN6,CNTN4
 null

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC03367
  PCR or SNP data validation
 
  Paternal
 
 
  CNTN4
 
engchuan_15_ASD_discovery_controls-control110036018174_
 
 
  Unknown
 
 
  RPL23AP39
 
engchuan_15_ASD_discovery_controls-control110036020238_
 
 
  Unknown
 
 
  RPL23AP38
 
engchuan_15_ASD_discovery_controls-controlB114549_1007853874
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB140638_1007853950
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB253888_1007853986
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB295382_1007853936
 
 
  Unknown
 
 
  RPL21P17
 
engchuan_15_ASD_discovery_controls-controlB299918_1007873981
 
 
  Unknown
 
 
  RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,CNTN6
 
engchuan_15_ASD_discovery_controls-controlB313016_1007842089
 
 
  Unknown
 
 
  RPS8P6,CHL1-AS1,CHL1
 
engchuan_15_ASD_discovery_controls-controlB438466_1007853689
 
 
  Unknown
 
 
  RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
 
engchuan_15_ASD_discovery_controls-controlB444871_1007853318
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB459199_1007840471
 
 
  Unknown
 
 
  HINT2P1,CNTN4
 
engchuan_15_ASD_discovery_controls-controlB483624_1007853685
 
 
  Unknown
 
 
  RNU6-1194P,CHL1-AS2,CHL1
 
engchuan_15_ASD_discovery_controls-controlB537495_1007853968
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB562526_1007875203
 
 
  Unknown
 
 
  RPL23AP38
 
engchuan_15_ASD_discovery_controls-controlB599274_1007848529
 
 
  Unknown
 
 
  CRB3P1,CNTN6
 
engchuan_15_ASD_discovery_controls-controlB609802_1007875361
 
 
  Unknown
 
 
  RPSAP32,LINC01266
 
engchuan_15_ASD_discovery_controls-controlB647111_1007846512
 
 
  Unknown
 
 
  RN7SL120P,LINC01266,CNTN6
 
engchuan_15_ASD_discovery_controls-controlB650813_1007846518
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB653776_1007846516
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB746634_1007854026
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB763036_1007875774
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB779852_1007875214
 
 
  Unknown
 
 
  RPL23AP38,RPL23AP39
 
engchuan_15_ASD_discovery_controls-controlB782997_1007853703
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB825632_1007852635
 
 
  Unknown
 
 
  RN7SL120P,LINC01266,CNTN6
 
engchuan_15_ASD_discovery_controls-controlB855640_1007853300
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB868245_1007871688
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB917428_1007845364
 
 
  Unknown
 
 
  RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
 
engchuan_15_ASD_discovery_controls-controlB993989_1007854998
 
 
  Unknown
 
 
  RPL21P17
 
engchuan_15_ASD_discovery_controls-controlHABC_900017_900017
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900162_900162
 
 
  Unknown
 
 
  DNAJC19P4,CNTN4
 
engchuan_15_ASD_discovery_controls-controlHABC_900295_900295
 
 
  Unknown
 
 
  LINC01266
 
engchuan_15_ASD_discovery_controls-controlHABC_900361_900361
 
 
  Unknown
 
 
  RN7SL120P,CNTN6
 
engchuan_15_ASD_discovery_controls-controlHABC_900529_900529
 
 
  Unknown
 
 
  CHL1-AS1,CHL1
 
engchuan_15_ASD_discovery_controls-controlHABC_900632_900632
 
 
  Unknown
 
 
  CHL1-AS2,CHL1
 
engchuan_15_ASD_discovery_controls-controlHABC_900638_900638
 
 
  Unknown
 
 
  CHL1-AS2,CHL1
 
engchuan_15_ASD_discovery_controls-controlHABC_900716_900716
 
 
  Unknown
 
 
  RPSAP32,LINC01266
 
engchuan_15_ASD_discovery_controls-controlHABC_900758_900758
 
 
  Unknown
 
 
  RPL23AP39
 
engchuan_15_ASD_discovery_controls-controlHABC_900758_900758
 
 
  Unknown
 
 
  CNTN4
 
engchuan_15_ASD_discovery_controls-controlHABC_900818_900818
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901068_901068
 
 
  Unknown
 
 
  RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS1,CHL1,LINC01266,CNTN6
 
engchuan_15_ASD_discovery_controls-controlHABC_901101_901101
 
 
  Unknown
 
 
  RPSAP32,CHL1,LINC01266
 
engchuan_15_ASD_discovery_controls-controlHABC_901236_901236
 
 
  Unknown
 
 
  CNTN4
 
engchuan_15_ASD_discovery_controls-controlHABC_902463_902463
 
 
  Unknown
 
 
  CNTN4-AS1,IL5RA
 
engchuan_15_ASD_discovery_controls-controlHABC_902483_902483
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902674_902674
 
 
  Unknown
 
 
 
 
glessner_09_ASD_discovery_controls-disccontrol12
 
 
  Unknown
  Unknown
  NA
 
 
kanduri_15_ASD_discovery_controls-control_split1039
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, CHL1(dist=78569),CNTN6(dist=568668)
 
kanduri_15_ASD_discovery_controls-control_split1054
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, CNTN6(dist=496082),CNTN4(dist=190555)
 
kanduri_15_ASD_discovery_controls-control_split1369
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, CNTN6(dist=337246),CNTN4(dist=352969)
 
kanduri_15_ASD_discovery_controls-control_split1976
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, CNTN6(dist=337246),CNTN4(dist=352969)
 
kanduri_15_ASD_discovery_controls-control_split2081
 
 
  Unknown
 
 
  CNTN4 (intronic)
 
kanduri_15_ASD_discovery_controls-control_split264
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, CNTN6(dist=496082),CNTN4(dist=190555)
 
kanduri_15_ASD_discovery_controls-control_split860
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, CNTN6(dist=496082),CNTN4(dist=190555)
 
krumm_15_ASD_discovery_controls-control11679.s1
  Illumina 1MDuo
 
  Maternal
 
 
  CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN6,CNTN4
 
krumm_15_ASD_discovery_controls-control11941.s1
  Illumina 1MDuo
 
  Paternal
 
 
  CNTN6
 
krumm_15_ASD_discovery_controls-control13645.s1
  1M-Duov3
 
  Paternal
 
 
  CHL1
 
krumm_15_ASD_discovery_controls-control14412.s1
  Omni2.5-4v1
 
  Maternal
 
 
  CRB3P1,CNTN6
 
kushima_18_ASD/SCZ_discovery_controls-controlCON0200
  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
 
 
  CNTN4
 
kushima_18_ASD/SCZ_discovery_controls-controlCON0200
  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
 
 
  HINT2P1,CNTN4
 
kushima_18_ASD/SCZ_discovery_controls-controlCON0606
  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
 
 
  CNTN6
 
kushima_18_ASD/SCZ_discovery_controls-controlCON2070
  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
 
 
  HINT2P1,CNTN4
 
levy_11_ASD_discovery_controls-11106.s1
 
 
  Paternal
  Simplex
  NA
  HINT2P1,CNTN4
 
levy_11_ASD_discovery_controls-11928.s2
  aCGH (Agilent 244K)
 
  De novo
  Simplex
  NA
  CNTN4
 
levy_11_ASD_discovery_controls-11999.s1
 
 
  Paternal
  Simplex
  NA
  RPSAP32,RN7SL120P,CRB3P1,LINC01266,CNTN6
 
mercati_16_ASD_discovery_controls-control10
  CNV validation not reported
 
  Unknown
 
 
  CNTN6
 
mercati_16_ASD_discovery_controls-control11
  CNV validation not reported
 
  Unknown
 
 
  CNTN6
 
mercati_16_ASD_discovery_controls-control12
  CNV validation not reported
 
  Unknown
 
 
  CNTN6
 
mercati_16_ASD_discovery_controls-control13
  CNV validation not reported
 
  Unknown
 
 
  CNTN6
 
mercati_16_ASD_discovery_controls-control14
  CNV validation not reported
 
  Unknown
 
 
  CNTN6
 
mercati_16_ASD_discovery_controls-control15
  CNV validation not reported
 
  Unknown
 
 
  CNTN6
 
mercati_16_ASD_discovery_controls-control16
  CNV validation not reported
 
  Unknown
 
 
  CNTN6
 
mercati_16_ASD_discovery_controls-control17
  CNV validation not reported
 
  Unknown
 
 
  CNTN6
 
mercati_16_ASD_discovery_controls-control5
  CNV validation not reported
 
  Unknown
 
 
  CNTN6
 
mercati_16_ASD_discovery_controls-control6
  CNV validation not reported
 
  Unknown
 
 
  CNTN6
 
mercati_16_ASD_discovery_controls-control7
  CNV validation not reported
 
  Unknown
 
 
  CNTN6
 
mercati_16_ASD_discovery_controls-control8
  CNV validation not reported
 
  Unknown
 
 
  CNTN6
 
mercati_16_ASD_discovery_controls-control9
  CNV validation not reported
 
  Unknown
 
 
  CNTN6
 
nord_11_ASD_discovery_controls-04C27412
 
 
 
 
 
  CNTN6
 
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11041.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11051.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CNTN4
 
sanders_11_ASD_discovery_controls-11051.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11106.s1
 
 
  Paternal
  Simplex (quad)
  NA
  HINT2P1,CNTN4
 
sanders_11_ASD_discovery_controls-11144.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11164.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11263.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CRB3P1,RPL23AP38,RPL23AP39,CNTN6
 
sanders_11_ASD_discovery_controls-11274.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11310.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11318.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11452.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11455.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CNTN4
 
sanders_11_ASD_discovery_controls-11584.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11597.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11630.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11679.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,CNTN6
 
sanders_11_ASD_discovery_controls-11720.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11731.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11775.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CNTN4
 
sanders_11_ASD_discovery_controls-11897.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11909.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CNTN6
 
sanders_11_ASD_discovery_controls-11928.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RPL21P17
 
sanders_11_ASD_discovery_controls-11941.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CNTN6
 
sanders_11_ASD_discovery_controls-11999.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RPSAP32,RN7SL120P,CRB3P1,LINC01266,CNTN6
 
sanders_11_ASD_discovery_controls-12007.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12130.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CNTN4
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CNTN4
 
sanders_11_ASD_discovery_controls-12189.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CNTN6
 
sanders_11_ASD_discovery_controls-12235.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12331.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12424.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12438.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12462.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12540.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13035.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13162.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13251.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPL21P17
 
wang_10_ASD_discovery_controls-Aut46
 
 
  Unknown
  NA
  NA
  RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
 
wang_10_ASD_discovery_controls-Aut99
 
 
  Unknown
  NA
  NA
  RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CHL1-AS2,CHL1-AS1,CHL1,LINC01266,CNTN6
 

No Animal Model Data Available
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