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8p22CNV Type: Deletion-Duplication


Largest CNV size: 1303074 bp

Statistics Box:
Number of Reports: 44


Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Duplication
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Deletion
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Deletion
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
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
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Copy Number Variations independently induce Autism Spectrum Disorder.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion
NA
Duplication
NA
Deletion
NA
Duplication
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bacchelli_20_ASD_discovery_cases
  NA NA
 Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
 128
 Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
 N/A
 82.81% Male
 265255
 0
 1
 1
 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
 25453
 1
 0
 1
 chen_17_ASD_discovery_cases
 Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
 335
 All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
 Mean age, 9.4 4.0 years
 89.25% Male
 564000
 1
 0
 1
 chung_11_ASD_discovery_cases
 Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
 1
 ASD (ADI-R and ADOS, Module 3)
 12
 Female
 71492
 2
 0
 2
 cucinotta_23_ASD_discovery_cases
  NA NA
 Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
 329
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 NA
 84.19% Male
 69735
 2
 0
 2
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 167861
 34
 5
 39
 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
 40228
 1
 0
 1
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 42766
 2
 1
 3
 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
 
 
 722869
 0
 2
 2
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 531663
 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
 1518222
 1
 5
 6
 han_22_ASD/DD/ID_discovery_cases
  NA NA
 Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
 410
 151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
 Mean age, 2 yrs. 11 mos.
 68.78% Male
 251523
 2
 0
 2
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 1213504
 4
 3
 7
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 2716
 2
 0
 2
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 554909
 2
 0
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 1055878
 11
 4
 15
 kushima_22_SCZ_discovery_cases
 Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
 3014
 Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 45 yrs.
 53.5% Male
 190165
 2
 0
 2
 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
 3
 3
 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
 19000
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 299101
 0
 1
 1
 lintas_17_ASD_discovery_cases
 ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
 41
 Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
 N/A
 87.80% Male
 69733
 2
 0
 2
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 10388
 1
 0
 1
 mahjani_22_OCD/CTD_discovery_cases
  NA NA
 Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
 1210
 993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
 Age of at least 16 yrs. (in the year 1997).
 42.15% Male
 619647
 0
 2
 2
 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
 
 
 32211
 1
 0
 1
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 15800
 1
 0
 1
 mosrati_12_ASD/MR_discovery_cases
 Affected siblings from a consanguineous Tunisian family with moderate to profound congenital hearing loss associated with mental retardation and autistic behavior.
 3
 Congenital hearing loss (3/3), mental retardation (2/3), and autistic traits (2/3)
 Range, 22-31 yrs.
 66.67% Male
 79158
 2
 0
 2
 mulle_13_SCZ_discovery_cases_1
 SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
 554
 Diagnosis of schizophrenia based on meeting DSM-IV citeria
 N/A
 N/A
 1314632
 0
 2
 2
 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
 224000
 1
 1
 2
 o'roak_12_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
 122
 ASD/autism
 NA
 NA
 1844071
 2
 1
 3
 pfundt_16_NDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1215
 Neurodevelopmental disorders
 N/A
 N/A
 444636
 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
 
 
 59318
 3
 0
 3
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 1055882
 3
 1
 4
 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
 159123
 11
 2
 13
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 347363
 1
 0
 1
 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
 
 
 215534
 0
 1
 1
 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
 71698
 6
 1
 7
 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
 1303074
 208
 12
 220
 schmitz-abe_20_ASD_discovery_cases
 ASD probands rom 187 families from the Homozygosity Mapping Collaborative of Autism (HMCA); 22% of families had more than one affected child, and 66% of families were consanguineous.
 255
 Diagnosis of autism or ASD made by a neurologist, child psychiatrist, or psychologist; DSM-IV-R criteria confirmed in all individuals with an Autism diagnosis
 N/A
 N/A
 88501
 4
 0
 4
 szatmari_07_ASD_discovery_cases
 ASD patients from 173 families with at least two affected individuals from AGP
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 597600
 0
 2
 2
 toma_13_ASD_discovery_cases
 Affected individuals from 10 multiplex ASD families (nine with two affected probands, one with three affected probands)
 21
 Affected individuals met DSM-IV criteria for autism, Asperger disorder or pervasive developmental disorder not otherwise specified (PDD-NOS), assessed using ADI-R (Autism-Diagnostic Interview-Revised) and ADOS-G (Autism Diagnostic Observation Schedule-Generic) diagnostic instruments.
 Range, 4-29 yrs.
 95.24% Male
 37779
 2
 0
 2
 woodbury-smith_14_ASD_discovery_cases
 Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
 19
 Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
 N/A
 N/A
 25068
 1
 0
 1
 xu_16_ASD/DD/ID_discovery_cases
 Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
 115
 66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
 Range, 18 months-15.1 years (mean age, 5.7 years)
 72.17% Male
 1299000
 0
 1
 1
 yingjun_17_ASD_discovery_cases
 ASD probands referred to the Clinical Genetics Service for genetic testing
 64
 Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 N/A
 N/A
 386355
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 322407
 2
 1
 3
 yuan_23_ASD_discovery_cases
 ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
 369
 Cases diagnosed with ASD using DSM-IV.
 NA
 NA
 625161
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bacchelli_20_ASD_discovery_controls
  NA NA
 Anonymized DNA samples from Italian individuals with no psychiatric disorders
 365
 Control
 N/A
 54.52% Male
 0
 0
 0
 0
 chen_17_ASD_discovery_controls1
 Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
 Mean age, 68.1 10.1 years
 48.03% Male
 0
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 1303074
 30
 9
 39
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 531663
 NA
 NA
 NA
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 0
 0
 0
 0
 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
 618533
 7
 0
 7
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 554909
 2
 0
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 527292
 8
 1
 9
 kushima_22_ASD/BPD/SCZ_discovery_controls
 Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
 2671
 Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
 Median age, 36 yrs.
 47.8% Male
 0
 0
 0
 0
 leppa_16_ASD_discovery_controls
 Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 572
 Control
 N/A
 N/A
 1300000
 0
 2
 2
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 mulle_13_SCZ_discovery_controls_1
 Control subjects selected from three cohorts: a study of Crohn's disease in the Ashkenazim, a study of neuromuscular disease in the Ashkenazim, and the Ashkenazi Jewish Control Registry hosted at Johns Hopkins University.
 1014
 Control. Control subjects from Crohn's and neuromuscular cohorts were not screened for psychiatric disease; Ashkenazi Jewish Control Registry subjects administered a questionnaire about psychiatric conditions.
 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.
 
 11422
 1
 0
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 54171
 3
 1
 4
 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)
 159123
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 884519
 141
 7
 148
 woodbury-smith_14_ASD_discovery_controls
 Platform-matched controls from the KORA and COGEND datasets
 2988
 Control
 N/A
 N/A
 0
 0
 0
 0
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 322407
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 bacchelli_20_ASD_discovery_cases
  Italian
 Solid phase hybridization
  Illumina Infinium PsychArray
 PennCNV, QuantiSNP, CNVPartition
 
 None
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-qPCR
 chung_11_ASD_discovery_cases
  Scottish-Canadian
 Array SNP
  Affymetrix 6.0
 HMM
 Affymetrix Genotyping Console v.2.1, Birdseed v.2
 
 cucinotta_23_ASD_discovery_cases
  Italy
 aCGH
  Agilent SurePrint 4180K
 ADM-2
 Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
 None
 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
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 han_22_ASD/DD/ID_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix SNP 6.0, Affymetrix CytoScan HD
 
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 kushima_22_SCZ_discovery_cases
  Japan
 aCGH
  NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
 Fast Adaptive States Segmentation Technique 2
 BioDiscovery Nexus Copy Number v.9.0
 qRT-PCR
 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
 
 
 lintas_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome CGH SurePrint G3 4x180K
 ADM-2
 Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
 Validation by visual inspection, RT-PCR, or PCR
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 mahjani_22_OCD/CTD_discovery_cases
  Sweden
 Solid phase hybridization
  Illumina Infinium Global Screening Array
 QuantiSNP, PennCNV, cnvPartition v.3.2.1
 CNVision, Illumina GenomeStudio v.2.0
 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
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 mosrati_12_ASD/MR_discovery_cases
  Tunisian
 Solid phase hybridization
  Illumina HumanCyto12v2.0 BeadChip
 QuantiSNP, PennCNV, VanillaICE
 BeadStudio V3.3
 None
 mulle_13_SCZ_discovery_cases_1
  Ashkenazi Jewish
 Array SNP
  Affymetrix 6.0
 GLAD, GADA, BEAST
 Affymetrix power tools software v1.12.0
 Solid phase hybridization
 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
 o'roak_12_ASD_discovery_cases
  NA
 WES
  NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
 HMM
 mrsFAST aligner
 aCGH, Sanger sequencing
 pfundt_16_NDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 schmitz-abe_20_ASD_discovery_cases
  Middle Eastern
 Array SNP
  Affymetrix 6.0, Affymetrix 500K
 
 
 qPCR
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 10K (v2)
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 toma_13_ASD_discovery_cases
  Spanish, Caucasian
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS
 qPCR
 woodbury-smith_14_ASD_discovery_cases
  US and Canada
 Solid phase hybridization
  Illumina HumanOmni2.5 BeadChip
 
 PennCNV, QuantiSNP, iPattern
 None
 xu_16_ASD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP
  BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
 
 Affymeytrix Genotyping Console v3.0.2
 None
 yingjun_17_ASD_discovery_cases
  Chinese
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS
 N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 yuan_23_ASD_discovery_cases
  China
 WES
  Illumina HiSeq
 NA
 GATK v.4.2.0.0.
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  bacchelli_20_ASD_discovery_controls
  Italian
  Solid phase hybridization
  Illumina Infinium PsychArray
  PennCNV, QuantiSNP, CNVPartition
 
  None
  chen_17_ASD_discovery_controls1
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  girirajan_13a_ASD_discovery_controls1
  NA
  aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
  ADM-2
  Agilent Genomic Workbench
  None
  girirajan_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  kushima_22_ASD/BPD/SCZ_discovery_controls
  Japan
  aCGH
  NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
  Fast Adaptive States Segmentation Technique 2
  BioDiscovery Nexus Copy Number v.9.0
  qRT-PCR
  leppa_16_ASD_discovery_controls
  N/A
  Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
  PennCNV, QuantiSNP, GNOSIS
  GenomeStudio, CNVision
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  mulle_13_SCZ_discovery_controls_1
  Ashkenazi Jewish
  Array SNP
  Affymetrix 6.0
  GLAD, GADA, BEAST
  Affymetrix power tools software v1.12.0
  None
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  woodbury-smith_14_ASD_discovery_controls
  Predominantly European
  Solid phase hybridization
  Illumina HumanOmni2.5 BeadChip
 
  PennCNV, QuantiSNP, iPattern
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  bacchelli_20_ASD_discovery_cases-caseAB118
  NA NA
 N/A
 M
 ASD
 Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
 
 16488234
 16753488
  265255
 GRCh38
 Duplication
 No
  brandler_18_ASD_replication_cases-case3-0078-000
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 13123428
 13148880
  25453
 GRCh38
 Deletion
 No
  chen_17_ASD_discovery_cases-caseU-1753
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 4 (past score 5); Qualitative abnormalities in verbal and nonverbal communication, current score 8 (past score 10); Qualitative abnormalities in nonverbal communication, current score 4 (past score 4); Restricted, repetitive, and stereotyped patterns of behaviour, current score 3 (past score 4); Abnormality of development evident at or before 36 months, past score 0. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 59; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 25. Epilepsy: history of febrile convulsion but ceased medication after episodes.
 Performance IQ 100, Verbal IQ 105, Full-scale IQ 103
 13420325
 13984283
  563959
 GRCh38
 Deletion
 Yes
  chung_11_ASD_discovery_cases-proband
 12
 F
 ASD
 Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
 WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
 16404714
 16417140
  12427
 GRCh38
 Deletion
 No
  chung_11_ASD_discovery_cases-proband
 12
 F
 ASD
 Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
 WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
 16092468
 16163959
  71492
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case130
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 16094501
 16164235
  69735
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case364
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 16094501
 16164235
  69735
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13041_503
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13218_2403
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16587216
 16677873
  90658
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14016_330
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13755991
 13792292
  36302
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14050_870
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16930645
 16968788
  38144
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14183_2990
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13757626
 13792292
  34667
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14193_3170
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14200_3240
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13755991
 13792292
  36302
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14211_3380
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14365_4790
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16066997
 16139670
  72674
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14397_5060
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18171_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20109_1504002
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20141_1396001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13714779
 13755991
  41213
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20180_1704001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 17756097
 17852591
  96495
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case2176_101
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16086798
 16163959
  77162
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3521_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 15813377
 15866418
  53042
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4150_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4174_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16055272
 16086798
  31527
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4238_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4239_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4428_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18801419
 18954510
  153092
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5008_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16701221
 16736745
  35525
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5070_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18947038
 19006355
  59318
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5293_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 17756834
 17852591
  95758
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5323_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 15544498
 15574673
  30176
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5350_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16405000
 16439711
  34712
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5440_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13757626
 13792292
  34667
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5507_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5557_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16631982
 16745351
  113370
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5557_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6041_2
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6130_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13690447
 13766175
  75729
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6152_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16027617
 16078281
  50665
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6329_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 15585104
 15707617
  122514
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6404_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16906840
 16938055
  31216
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8488_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8549_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8623_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8680_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 15386238
 15554099
  167862
 GRCh38
 Deletion
 No
  feliciano_19_ASD_discovery_cases-caseSP0002092
 N/A
 M
 ASD
 Family history: mother presents with depression; father presents with anxiety.
 
 16110085
 16150312
  40228
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1332301
 
 
 Autism
 
 
 14974008
 15016773
  42766
 Unknown
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1510302
 
 
 Autism
 
 
 13626738
 13659506
  32769
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1512301
 
 
 Autism
 
 
 13785453
 13828113
  42661
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU002903
 
 
 Autism
 
 
 14238727
 14961595
  722869
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU026804
 
 
 Autism
 
 
 14807267
 14963928
  156662
 Unknown
 Duplication
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case36901
 8 yrs. 11 mos.
 F
 Developmental delay
 Behavioral problems: ADHD, mood swings. Normal tone, poor coordination, difficulty following directions. Dysmorphic features: high anterior hairline, frontal bossing, downslanting palpebral fissures, arched eyebrows, high palate. Congenital anomalies: pectus excavatum, 2-3 toe syndactyly. Other features: strabismus. Growth parameters: weight 90th %ile, height 75th %ile, OFC +2.3 SD. Family history: father and brother have bipolar disorder.
 Global developmental delay
 16655013
 17186676
  531664
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-11141.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
 13498120
 14808120
  1310001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-11198.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
 13488120
 13748120
  260001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-11501.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
 15239379
 16757601
  1518223
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-13688.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
 13488120
 13748120
  260001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13935.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
 13498120
 14788120
  1290001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-AU1536304
 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
 13498120
 14788120
  1290001
 GRCh38
 Duplication
 No
  han_22_ASD/DD/ID_discovery_cases-case15D2926
  NA NA
 7 mos. 8 days
 M
 Developmental delay
 
 
 16416886
 16668408
  251523
 GRCh38
 Deletion
 No
  han_22_ASD/DD/ID_discovery_cases-caseY11
  NA NA
 4 yrs. 3 mos.
 F
 ASD
 
 
 16092467
 16163959
  71493
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000043
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 15814812
 16351017
  536206
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000777
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 13544227
 14757731
  1213505
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002213
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16095273
 16164235
  68963
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002308
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 13421415
 14228782
  807368
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002317
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16095273
 16164235
  68963
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004656
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16094302
 16746208
  651907
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005160
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18004389
 18497384
  492996
 GRCh38
 Deletion
 Yes
  kanduri_15_ASD_discovery_cases-case2991
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 15784174
 15786889
  2716
 Unknown
 Homozygous deletion
 No
  krumm_13_ASD_discovery_cases-case11501.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11501. SRS score of 64.
 Full-scale IQ (FSIQ) score of 78.
 15623079
 16177988
  554910
 GRCh38
 Deletion
 No (not tested)
  krumm_13_ASD_discovery_cases-case13196.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13196. SRS score of 90.
 Full-scale IQ (FSIQ) score of 92.
 16110084
 16164251
  54168
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11141.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 13499048
 14554926
  1055879
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11304.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 13499048
 13567951
  68904
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11501.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 15650696
 16177988
  527293
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11556.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 16110084
 16164251
  54168
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12130.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 16110084
 16164251
  54168
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13196.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 16110084
 16164251
  54168
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13350.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 16110084
 16141045
  30962
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13484.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 16110084
 16164251
  54168
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13616.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 16110084
 16164251
  54168
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13688.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 13499048
 13567951
  68904
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13720.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 16110084
 16164251
  54168
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14210.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 16110084
 16164251
  54168
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14228.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 16110084
 16164251
  54168
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14245.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 16110084
 16164251
  54168
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14319.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 18222041
 18400876
  178836
 GRCh38
 Duplication
 Yes
  kushima_22_SCZ_discovery_cases-caseSCZ0979
 NA
 NA
 Schizophrenia
 Diagnosis of schizophrenia according to DSM-5 criteria.
 
 17928950
 17991691
  62742
 GRCh38
 Deletion
 Yes
  kushima_22_SCZ_discovery_cases-caseSCZ2498
 NA
 NA
 Schizophrenia
 Diagnosis of schizophrenia according to DSM-5 criteria.
 
 17770514
 17960678
  190165
 GRCh38
 Deletion
 Yes
  leppa_16_ASD_discovery_cases-AU002903
 N/A
 M
 ASD
 
 
 14336491
 15059491
  723001
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU1536304
 N/A
 M
 ASD
 
 
 13502491
 14801491
  1299001
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU3862306
 N/A
 M
 ASD
 
 
 15792491
 16402491
  610001
 GRCh38
 Duplication
 No
  lesca_12_EP_discovery_cases-case13-19
 NA
 M
 Epilepsy
 Phenotype: i-CSWSS. Seizure Characteristics: Awakening, CSSG. Autistic features: No. ADHD features: Yes. Other features: None.
 Initial cognitive development: Normal. Cognitive regression: No. Verbal IQ 110, performance IQ 109 (at 7 years of age)
 14696044
 14714861
  18818
 GRCh38
 Deletion
 Yes
  levy_11_ASD_discovery_cases-11304.p1
 NA
 M
 ASD
 NA
 NA
 13465182
 13764282
  299101
 GRCh38
 Duplication
 No
  lintas_17_ASD_discovery_cases-case4.1
 N/A
 N/A
 Autism
 No additional clinical information available
 
 16094502
 16164235
  69734
 GRCh38
 Deletion
 Yes
  lintas_17_ASD_discovery_cases-case4.2
 N/A
 N/A
 Asperger syndrome
 No additional clinical information available
 
 16094502
 16164235
  69734
 GRCh38
 Deletion
 Yes
  lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 13 yrs.
 F
 ASD
 Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
 Completed secondary school degree with exception of mathematics
 15545551
 15555938
  10388
 GRCh38
 Deletion
 No
  mahjani_22_OCD/CTD_discovery_cases-case21
  NA NA
 NA
 F
 OCD
 Case diagnosed with obsessive compulsive disorder (OCD).
 
 17935586
 18555232
  619647
 GRCh38
 Duplication
 No
  mahjani_22_OCD/CTD_discovery_cases-case41
  NA NA
 NA
 F
 Chronic tic disorder
 Case diagnosed with chronic tic disorder (CTD).
 
 17935586
 18555232
  619647
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-SK0119-003
 NA
 M
 Below ASD cutoffs
 RL/EL moderate/severe delay, severe dysmorphism, velocradiofacial syndrome
 IQ/LOF 77
 17804524
 17836735
  32212
 GRCh38
 Deletion
 Yes
  morrow_08_ASD_discovery_cases-case8001
 NA
 
 ASD
 NA
 NA
 16013000
 16029000
  15800
 Unknown
 Deletion
 No
  mosrati_12_ASD/MR_discovery_cases-caseV3
 31 yrs.
 M
 Mental retardation and autistic traits
 Behavioral and psychiatric evaluation: autistic traits such as escaping others sight and dialogue. Visual and auditory evaluation: profound hearing loss. Dysmorphic features: coarse facial features (prominent heavy eyebrows). Family history: consanguineous parents; brother with autistic traits and hearing loss (no mental retardation); sister with mental retardation and hearing loss (no autistic traits).
 Profound mental retardation (MR)
 16505055
 16569399
  64344
 Unknown
 Deletion
 No
  mosrati_12_ASD/MR_discovery_cases-caseV5
 26 yrs.
 M
 Autistic traits
 Behavioral and psychiatric evaluation: autistic traits reminiscent of Asperger syndrome. Language and communication evaluation: no oral speech; able to have coherent hand-sign conservation with mother and unaffected brother. Visual and auditory evaluation: moderate hearing loss. Family history: consanguineous parents; brother with autistic traits, mental retardation, and hearing loss; sister with mental retardation and hearing loss (no autistic traits).
 No mental retardation
 16490241
 16569399
  79158
 Unknown
 Deletion
 No
  mulle_13_SCZ_discovery_cases_1-caseAJ_8211_1
 N/A
 N/A
 Schizophrenia
 N/A
 N/A
 13498736
 14813368
  1314633
 GRCh38
 Duplication
 Yes
  mulle_13_SCZ_discovery_cases_1-caseAJ_8773_1
 N/A
 N/A
 Schizophrenia
 N/A
 N/A
 13498736
 14813205
  1314470
 GRCh38
 Duplication
 Yes
  nava_13_ASD_discovery_cases-Fam1057Proband9942
 N/A
 F
 ASD
 Additional clinical profile info N/A
 ID
 18919496
 19143690
  224195
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam625Proband7374
 14 yrs. 10 mos.
 M
 ASD
 Developmental milestones: age of walking of 19 months. Language and communication evaluation: has language. Epilepsy/seizures: yes (temporal myoclonus). Other features: Marfanoid. Dysmorphic features: prognatism, short philtrum, small mouth, everted lower lip. Growth parameters: height and head circumference within normal range, weight -1 SD. Patient also carries paternally-inherited missense variant in DOCK10 gene.
 ID (moderate)
 17426461
 17541640
  115180
 GRCh38
 Deletion
 No
  o'roak_12_ASD_discovery_cases-case11141.p1
 NA
 M
 ASD/Autism
 No additional clinical info available.
 High IQ. Non verbal IQ, 93
 13393552
 15237623
  1844072
 GRCh38
 Duplication
 Yes
  o'roak_12_ASD_discovery_cases-case11556.p1
 NA
 M
 ASD/Autism
 No additional clinical info available.
 High IQ. Non verbal IQ, 102
 16090726
 16164376
  73651
 GRCh38
 Deletion
 Yes
  o'roak_12_ASD_discovery_cases-case12130.p1
 NA
 F
 ASD/Autism
 Case also identified with de novo ADNP frameshift mutation. No additional clinical info available.
 Low IQ. Non verbal IQ, 55
 16090726
 16164376
  73651
 GRCh38
 Deletion
 Yes
  pfundt_16_NDD_discovery_cases-case27
 N/A
 N/A
 NDD
 Disease cohort: neurodevelopmental disorder. Description: TUSC3 deletion
 
 15730665
 16175301
  444637
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5008_3
 NA
 M
 ASD
 NA
 NA
 16701221
 16736745
  35525
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5070_4
 NA
 M
 Autism
 Below average language (<1%ile), no epilepsy, no dysmorphic features
 Average nonverbal IQ (34%ile)
 18947038
 19006355
  59318
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5323_3
 NA
 M
 ASD
 NA
 NA
 15544498
 15574673
  30176
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case00HI1452A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU050604; NDAR ID NDAR_INVPK100HW6)
 
 16110083
 16164253
  54171
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case05HI3744A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1228304; NDAR ID NDAR_INVZU052GUK)
 
 16110083
 16141047
  30965
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case05HI4009A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1536304; NDAR ID NDAR_INVAF724EZT)
 
 13499047
 14554928
  1055882
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0718C
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU000704; NDAR ID NDAR_INVVE723FCW)
 
 16110083
 16164253
  54171
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case104051L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 17783565
 17793650
  10086
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case137917
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 14781821
 14791436
  9616
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case142468
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 12917571
 12925948
  8378
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case149491L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 17650416
 17809538
  159123
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case47097
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 18849857
 18908487
  58631
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case51524
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 15543840
 15657122
  113283
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case58294L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 17662253
 17752135
  89883
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case58470L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 16602915
 16639419
  36505
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case63727
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 13026251
 13048779
  22529
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case66673
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 15406972
 15431044
  24073
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case76436L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 18753561
 18769510
  15950
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case82058L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 18753561
 18769510
  15950
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case85170L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 12859060
 12886824
  27765
 Unknown
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_599
 2 yrs.
 M
 Developmental delay
 Incomplete parental clinical history.
 Global developmental delay
 15688131
 16035493
  347363
 GRCh38
 Deletion
 No
  rosenfeld_10_ASD_discovery_cases-case2077
 NA
 NA
 ASD
 NA
 NA
 14101041
 14316575
  215534
 Unknown
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1090-0
 N/A
 N/A
 ACC-PMG
 Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: yes. Seizures: no.
 Developmental delay: yes. Intellectual disability: yes.
 16092262
 16163959
  71698
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1346-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: yes.
 16092262
 16163959
  71698
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1589-0
 N/A
 N/A
 CBLH-PMG
 Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
 
 16092262
 16163959
  71698
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-156
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: N/A.
 Developmental delay: N/A. Intellectual disability: N/A.
 18333413
 18401856
  68444
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-260
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 16092262
 16163959
  71698
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-290
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: N/A.
 Developmental delay: yes. Intellectual disability: N/A.
 16092262
 16163959
  71698
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-354
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: N/A.
 Developmental delay: yes. Intellectual disability: N/A.
 16092262
 16163959
  71698
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11001.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
 17893228
 17895797
  2570
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11001.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
 16514575
 16541654
  27080
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11006.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 99
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11008.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 119; verbal IQ, 133
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11012.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 80; verbal IQ, 83
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11017.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11033.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
 17893731
 17894650
  920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11039.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 43; verbal IQ 29
 17893731
 17894650
  920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11044.p1
 5.5
 M
 Aspergers
 NA
 Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ 112
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11049.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11049.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
 17893731
 17895198
  1468
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11051.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 114
 16405000
 16417176
  12177
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11056.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 90; verbal IQ, 62
 16027617
 16078281
  50665
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11073.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 17893731
 17894650
  920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11092.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 108
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11098.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
 17893731
 17894650
  920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11117.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 119; verbal IQ, 119
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11122.p1
 7.8
 F
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
 17893731
 17895198
  1468
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11129.p1
 4.7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
 17893685
 17894657
  973
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11134.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11141.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
 13499992
 14803066
  1303075
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11173.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 71; verbal IQ 49
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11188.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ 99
 17893228
 17895177
  1950
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11189.p1
 14.5
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 77; verbal IQ, 37
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11202.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
 17893685
 17894657
  973
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11252.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
 17893731
 17894650
  920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11263.p1
 13.2
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 92
 16405000
 16417176
  12177
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11275.p1
 14.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 90
 14512087
 14533491
  21405
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11301.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
 15191386
 15228600
  37215
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11304.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 61; verbal IQ, 47
 13466930
 13766175
  299246
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11330.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11346.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 132; verbal IQ, 121
 17893731
 17894650
  920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11349.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50
 17893731
 17894650
  920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11353.p1
 5.3
 F
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 77; verbal IQ, 64
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11360.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
 14838236
 14906855
  68620
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11381.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 89; verbal IQ, 68
 17892648
 17894650
  2003
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11396.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11401.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 93
 17893731
 17894650
  920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11409.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
 17893731
 17894650
  920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11415.p1
 11.6
 M
 ASD
 NA
 Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 76
 17723143
 17724628
  1486
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11421.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11432.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
 16405000
 16417176
  12177
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11436.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
 17892691
 17895198
  2508
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11444.p1
 16.3
 F
 Aspergers
 NA
 Full-scale IQ, 120; non-verbal IQ, 125; verbal IQ, 121
 17893731
 17895198
  1468
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11458.p1
 16.4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126
 13691200
 13704617
  13418
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11462.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 117; verbal IQ, 121
 17893731
 17894650
  920
 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
 17893731
 17894650
  920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11494.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109
 14399351
 14450308
  50958
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11495.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11501.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 71
 15562268
 16439711
  877444
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11510.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
 13211733
 13216627
  4895
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11510.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
 16027617
 16078281
  50665
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11511.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11516.p1
 12.8
 M
 Aspergers
 NA
 Full-scale IQ, 111; non-verbal IQ, 112; verbal IQ, 107
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11523.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 72
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11537.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
 15926665
 15929380
  2716
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11541.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11542.p1
 12.5
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 102; verbal IQ, 121
 17893731
 17894650
  920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11543.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
 15562268
 15575029
  12762
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11556.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
 16090726
 16171585
  80860
 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
 17892790
 17894657
  1868
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11571.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 94; verbal IQ, 111
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11575.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 105; verbal IQ, 100
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11577.p1
 14.5
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 100; verbal IQ, 73
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11587.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144
 17962303
 17972496
  10194
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11590.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11592.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11601.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11612.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 90; verbal IQ, 79
 15464787
 15468159
  3373
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11615.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11625.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
 15562268
 15575029
  12762
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11638.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 76; verbal IQ, 30
 12896758
 12916449
  19692
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11638.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 76; verbal IQ, 30
 18218781
 18222012
  3232
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11644.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11673.p1
 6.3
 M
 Aspergers
 NA
 Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 92
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11673.p1
 6.3
 M
 Aspergers
 NA
 Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 92
 14388580
 14393586
  5007
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11704.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
 17565208
 17566357
  1150
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11704.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
 17891588
 17895797
  4210
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11707.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11710.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
 17892790
 17895177
  2388
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11794.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11812.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 67; verbal IQ, 77
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11812.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 67; verbal IQ, 77
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11845.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11860.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11869.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
 17893228
 17895177
  1950
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11879.p1
 5.3
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 89; verbal IQ, 69
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11879.p1
 5.3
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 89; verbal IQ, 69
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11894.p1
 5.4
 M
 ASD
 NA
 Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 125
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11911.p1
 9.9
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 79
 13581199
 13746605
  165407
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11913.p1
 4.5
 F
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 99; verbal IQ, 105
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11914.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11916.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11916.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
 17893685
 17895198
  1514
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11918.p1
 9.8
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
 17892738
 17894657
  1920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11928.p1
 12.6
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11941.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11942.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 50; non-verbal IQ, 44; verbal IQ, 62
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11962.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11963.p1
 6.1
 M
 ASD
 NA
 Full-scale IQ, 93; non-verbal IQ, 90; verbal IQ, 104
 17893228
 17895177
  1950
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11966.p1
 13.2
 M
 Autism
 NA
 Full-scale IQ, 32; non-verbal IQ, 35; verbal IQ, 26
 17893228
 17895177
  1950
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11969.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
 18994964
 19008858
  13895
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11972.p1
 8.5
 F
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11979.p1
 7.5
 M
 ASD
 NA
 Full-scale IQ, 107; non-verbal IQ, 104; verbal IQ, 114
 14433808
 14440460
  6653
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11981.p1
 6.6
 F
 Aspergers
 NA
 Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
 15562268
 15575029
  12762
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11982.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
 18994964
 19008858
  13895
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11986.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
 17893685
 17894657
  973
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11995.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12007.p1
 8.7
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12008.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
 17892790
 17895177
  2388
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12028.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 80
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12029.p1
 8.6
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 108; verbal IQ, 94
 16402657
 16423062
  20406
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12051.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 66; verbal IQ, 63
 17723646
 17724191
  546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12071.p1
 11.7
 F
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
 16090726
 16171585
  80860
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12077.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
 15926665
 15929380
  2716
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12081.p1
 12.9
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 87; verbal IQ, 92
 17893228
 17895177
  1950
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12087.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 108
 15889558
 15900468
  10911
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12103.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
 17893685
 17894657
  973
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12115.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 107; verbal IQ, 94
 14595779
 14684461
  88683
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12117.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
 17565208
 17566357
  1150
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12117.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
 17893685
 17894657
  973
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12130.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12162.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12170.p1
 7.8
 F
 ASD
 NA
 Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12187.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 105
 17893228
 17895177
  1950
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12198.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12202.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
 17893685
 17895177
  1493
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12206.p1
 17.1
 M
 Aspergers
 NA
 Full-scale IQ, 130; non-verbal IQ, 141; verbal IQ, 113
 17893685
 17894657
  973
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12210.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12215.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 113; verbal IQ, 96
 18852937
 18866050
  13114
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12220.p1
 14.4
 F
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13
 17892790
 17894657
  1868
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12221.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
 13819910
 13838517
  18608
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12239.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
 17892819
 17894657
  1839
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12255.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
 17892738
 17894657
  1920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12257.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 109; non-verbal IQ, 109; verbal IQ, 106
 17944683
 18017095
  72413
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12261.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12264.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12271.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 41; verbal IQ, 40
 15462428
 15476182
  13755
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12287.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
 15562268
 15575029
  12762
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12287.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
 17892790
 17894657
  1868
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12299.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 125
 16660361
 16663349
  2989
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12306.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12313.p1
 11.8
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
 16573953
 16720956
  147004
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12314.p1
 6.2
 M
 ASD
 NA
 Full-scale IQ, 116; non-verbal IQ, 121; verbal IQ, 103
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12316.p1
 12.5
 M
 ASD
 NA
 Full-scale IQ, 112; non-verbal IQ, 109; verbal IQ, 114
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12321.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 76
 15795369
 16007938
  212570
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12323.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 92
 15926665
 15929380
  2716
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12329.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 82
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12341.p1
 13.8
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 114
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12350.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12358.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 36; verbal IQ, 36
 16263658
 16318473
  54816
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12361.p1
 4.8
 M
 ASD
 NA
 Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 98
 17893685
 17894657
  973
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12369.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 59; verbal IQ, 50
 18994964
 19000777
  5814
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12373.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 0; non-verbal IQ, 77; verbal IQ, 40
 17892790
 17894657
  1868
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12376.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 104
 16953901
 16970001
  16101
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12381.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 64; verbal IQ, 79
 17893685
 17895177
  1493
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12382.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 94; verbal IQ, 88
 18994964
 19003973
  9010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12414.p1
 4.4
 M
 ASD
 NA
 Full-scale IQ, 116; non-verbal IQ, 129; verbal IQ, 90
 17892790
 17894657
  1868
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12418.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12423.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
 16103682
 16109929
  6248
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12424.p1
 4.2
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
 17892790
 17894657
  1868
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12444.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
 17892790
 17894657
  1868
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12478.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
 17892721
 17894657
  1937
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12480.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
 14328496
 14352271
  23776
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12494.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12497.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 63; verbal IQ, 49
 17892648
 17894657
  2010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12540.p1
 6.9
 F
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12555.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12558.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
 17892738
 17894657
  1920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12565.p1
 10.6
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12568.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 75; verbal IQ, 26
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12573.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 70; verbal IQ, 80
 17891411
 17900377
  8967
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12579.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
 17892790
 17894657
  1868
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12598.p1
 17.4
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 83; verbal IQ, 34
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12622.p1
 15.1
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 97; verbal IQ, 70
 17893869
 17894657
  789
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12623.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 95
 18994964
 19006355
  11392
 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
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12629.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 113; verbal IQ, 101
 12959997
 12982852
  22856
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12637.p1
 7.3
 M
 ASD
 NA
 Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
 17892790
 17894657
  1868
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12653.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 69; verbal IQ, 97
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12657.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 77; verbal IQ, 89
 17892721
 17894657
  1937
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12715.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 109
 17893685
 17894657
  973
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12722.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
 17723646
 17724191
  546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12754.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 125; verbal IQ, 115
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12759.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 114; verbal IQ, 89
 17892721
 17894657
  1937
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12764.p1
 15.2
 F
 ASD
 NA
 Full-scale IQ, 94; non-verbal IQ, 99; verbal IQ, 86
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12786.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 87
 16402657
 16415383
  12727
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12831.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 94; verbal IQ, 64
 17723143
 17724191
  1049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12832.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12837.p1
 4.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 89
 17892790
 17894657
  1868
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12858.p1
 4.2
 F
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
 13853732
 13864485
  10754
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12878.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12879.p1
 10.3
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 35; verbal IQ, 33
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12892.p1
 6.3
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12924.p1
 5.5
 F
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 117; verbal IQ, 81
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12925.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 101; verbal IQ, 136
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12961.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12961.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13005.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 116; verbal IQ, 114
 18994964
 19006355
  11392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13007.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 107; verbal IQ, 67
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13013.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
 16402657
 16415383
  12727
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13045.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 38; verbal IQ, 35
 17892721
 17894657
  1937
 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
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13079.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 141; verbal IQ, 128
 16402657
 16415383
  12727
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13080.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 104; verbal IQ, 121
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13085.p1
 14.8
 M
 ASD
 NA
 Full-scale IQ, 82; non-verbal IQ, 78; verbal IQ, 95
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13097.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
 17892738
 17894657
  1920
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13159.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 95; verbal IQ, 55
 17892790
 17894657
  1868
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13162.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13162.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
 17723282
 17724191
  910
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13166.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 45
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13169.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 45; non-verbal IQ, 62; verbal IQ, 37
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13192.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 94
 16174030
 16192747
  18718
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13195.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13196.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ, 95
 16090726
 16163959
  73234
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13199.p1
 15.2
 F
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 97
 17892790
 17894657
  1868
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13226.p1
 8.7
 M
 ASD
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
 13690447
 13705055
  14609
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13233.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
 17893228
 17895177
  1950
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13266.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
 17893228
 17894657
  1430
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 16104334
 16109929
  5596
 GRCh38
 Deletion
 No
  schmitz-abe_20_ASD_discovery_cases-caseAU-22901
 N/A
 M
 ASD
 Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion segregated with ASD in this family.
 
 16080076
 16168576
  88501
 GRCh38
 Deletion
 Yes
  schmitz-abe_20_ASD_discovery_cases-caseAU-3301
 N/A
 M
 ASD
 Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion did not segregate with ASD in this family.
 
 18995165
 19004765
  9601
 GRCh38
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR041-F5-00C03537
 NA
 
 ASD
 NA
 NA
 13668720
 14266320
  597601
 GRCh38
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR041-G2-00C04611
 NA
 
 ASD
 NA
 NA
 13668720
 14266320
  597601
 GRCh38
 Duplication
 Yes
  toma_13_ASD_discovery_cases-caseSJD_50.3
 16 yrs.
 M
 Asperger syndrome
 Diagnostic: meets research criteria for Asperger Syndrome (ADI-R +; ADOS +; clinical diagnosis (DSM IV-TR+)); evidence of onset prior to 3 years of age; no language delay. Adaptive behavior: Daily Living Skills: alteration (<1st percentile); Communication: alteration (<1st percentile); Social-Emotional: alteration (<1st percentile). Aberrant behavior: affective alterations. Medical history: bronchitis at 8 months. Family and developmental history: first of three affected siblings; no family history of ASD; father with depression; no significant psychiatric history on maternal side; first-degree relative with depression and a second-degree relative with non-specified affective disorder. Pregnancy and birth: vaginal delivery at 39 weeks; no pregnancy or birth complications. Paternal/maternal age at time of conception: 27 yrs./21 yrs.
 Full Scale IQ: With significant differences between verbal comprehension and perceptive reasoning (> 23 points); Non-Verbal IQ: 97; Verbal IQ: 131
 18051407
 18089186
  37780
 GRCh38
 Deletion
 Yes
  toma_13_ASD_discovery_cases-caseSJD_50.4
 15 yrs.
 F
 Asperger syndrome, ADHD, and OCD
 Diagnostic: meets research criteria for Asperger Syndrome (ADI-R +; clinical diagnosis (DSM IV-TR+)), ADHD and Obsessive-Compulsive Disorder (OCD); evidence of onset prior to 3 years of age; no language delay. Adaptive behavior: Daily Living Skills: alteration (<1st percentile) Communication: alteration (<1st percentile); Social-Emotional: alteration (<1st percentile). Aberrant behavior: elevated for hyperactivity. Medical history: nothing of note. Family and developmental history: second of three affected siblings; no family history of ASD; father with depression; no significant psychiatric history on maternal side; first-degree relative with depression and a second-degree relative with non-specified affective disorder. Pregnancy and birth: vaginal delivery at 39 weeks; pregnancy with diabetes. Paternal/maternal age at time of conception: 28 yrs./22 yrs.
 Full Scale IQ: With significant differences between verbal comprehension and perceptive reasoning (>23 points); Non-Verbal IQ: 98; Verbal IQ: 123
 18051407
 18089186
  37780
 GRCh38
 Deletion
 Yes
  woodbury-smith_14_ASD_discovery_cases-case3
 N/A
 N/A
 ASD
 Family history: CNV found in 1 additional ASD case and 2 non-ASD cases.
 
 13123630
 13148697
  25068
 GRCh38
 Deletion
 No
  xu_16_ASD/DD/ID_discovery_cases-case26
 N/A
 N/A
 ASD
 Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
 
 13543107
 14842967
  1299861
 GRCh38
 Duplication
 No
  yingjun_17_ASD_discovery_cases-case7032
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
 
 17513809
 17900164
  386356
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case307
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 13420325
 13742731
  322407
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case308
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 14631262
 14785394
  154133
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case309
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 17462372
 17619195
  156824
 GRCh38
 Duplication
 No
  yuan_23_ASD_discovery_cases-qma01681s000
 NA
 NA
 ASD
 Case diagnosed with ASD according to DSM-IV criteria.
 
 17341112
 17966272
  625161
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036017630_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036018182_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  18964739
  19034816
  70078
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036020154_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036022705_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16086798
  16163959
  77162
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB272356_1007841423
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13533429
  13594480
  61052
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB295219_1007872186
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16027617
  16078281
  50665
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB301469_1007854697
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB326294_1007873306
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB421125_1007874266
  N/A
  N/A
  Control
  No previous psychiatric history
 
  15507869
  15554099
  46231
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB561892_1007853627
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13499992
  14803066
  1303075
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB599757_1007875362
  N/A
  N/A
  Control
  No previous psychiatric history
 
  15503505
  15554099
  50595
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB609066_1007854342
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16027617
  16078281
  50665
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB618506_1007853744
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB640981_1007874885
  N/A
  N/A
  Control
  No previous psychiatric history
 
  14527811
  14672342
  144532
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB646037_1007875322
  N/A
  N/A
  Control
  No previous psychiatric history
 
  18333413
  18402516
  69104
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB772297_1007873646
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16587216
  16667519
  80304
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB779589_1007853847
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB970964_1007842336
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16405000
  16439711
  34712
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900023_900023
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900127_900127
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13383489
  13415968
  32480
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900136_900136
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16042179
  16078281
  36103
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900282_900282
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900338_900338
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16027617
  16078281
  50665
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900394_900394
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900456_900456
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16062107
  16116761
  54655
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900489_900489
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900499_900499
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13757626
  13792292
  34667
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900554_900554
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900596_900596
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900740_900740
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901038_901038
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901038_901038
  N/A
  N/A
  Control
  No previous psychiatric history
 
  14701052
  14788052
  87001
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901191_901191
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16168455
  77730
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901206_901206
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902430_902430
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13313987
  13389846
  75860
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902496_902496
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902650_902650
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16043710
  16081673
  37964
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902677_902677
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1184
  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
 
  18853940
  18857090
  3151
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1532
  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
 
  17052601
  17155432
  102832
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split197
  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
 
  18654794
  18749120
  94327
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split2109
  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
 
  15784174
  16272892
  488719
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split545
  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
 
  15784174
  15786889
  2716
  Unknown
  Homozygous deletion
  No
  kanduri_15_ASD_discovery_controls-control_split624
  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
 
  15402936
  16021468
  618533
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11501.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11501. SRS score of 48.
 
  15623079
  16177988
  554910
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control12810.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12810. SRS score of 38.
 
  16110084
  16164251
  54168
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11501.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  15650696
  16177988
  527293
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12231.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  16110084
  16164251
  54168
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12788.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  16110084
  16164251
  54168
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12810.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  16110084
  16164251
  54168
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13534.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  16110084
  16164251
  54168
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13616.s2
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  16110084
  16164251
  54168
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13720.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  16110084
  16164251
  54168
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14245.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  16110084
  16164251
  54168
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14417.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  18535742
  18600434
  64693
  GRCh38
  Duplication
  Yes
  leppa_16_ASD_discovery_controls-AU002904
  N/A
  F
  Control
  Unaffected sibling
 
  14336491
  15059491
  723001
  GRCh38
  Duplication
  No
  leppa_16_ASD_discovery_controls-AU1536305
  N/A
  M
  Control
  Unaffected sibling
 
  13502491
  14801491
  1299001
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C28409
 
 
  Control
 
 
  15822499
  15833920
  11422
  Unknown
  Deletion
 
  poultney_13_ASD_discovery_controls-control04C29071A
  N/A
  M
  Control
  NIMH Control (NIMH ID 28620)
 
  16110083
  16164253
  54171
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control04C33887A
  N/A
  F
  Control
  NIMH Control (NIMH ID 31937)
 
  16110083
  16164253
  54171
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C41778
  N/A
  M
  Control
  NIMH Control (NIMH ID 47544)
 
  15623078
  15673838
  50761
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44482
  N/A
  F
  Control
  NIMH Control (NIMH ID 72407)
 
  16110083
  16164253
  54171
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11002.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  17722079
  17724191
  2113
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11017.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11056.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  16036348
  16073864
  37517
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11073.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  17893731
  17894650
  920
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11094.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11098.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  17893731
  17895198
  1468
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11158.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11176.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11189.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11220.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  15841130
  15880506
  39377
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11234.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  16402657
  16415383
  12727
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11246.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11252.s1
  11.4
  M
  Control (matched sibling)
  NA
  NA
  17893731
  17894650
  920
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11296.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  17893731
  17895198
  1468
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11301.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  15189505
  15228600
  39096
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11345.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  16405000
  16417176
  12177
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11349.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  17893731
  17894650
  920
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11360.s1
  8.4
  F
  Control (matched sibling)
  NA
  NA
  14839455
  14906855
  67401
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11367.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11391.s1
  18.1
  M
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11396.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11399.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  17893731
  17894650
  920
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11455.s1
  8.9
  F
  Control (matched sibling)
  NA
  NA
  16405000
  16423062
  18063
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11459.s1
  14.3
  M
  Control (matched sibling)
  NA
  NA
  13877313
  13884789
  7477
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11466.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  13998638
  14080827
  82190
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11474.s1
  19
  M
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11495.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11501.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  15562268
  16446787
  884520
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11523.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11524.s1
  17.3
  M
  Control (matched sibling)
  NA
  NA
  17893731
  17894650
  920
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11537.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  15926665
  15929380
  2716
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11542.s1
  14.6
  F
  Control (matched sibling)
  NA
  NA
  17893731
  17895198
  1468
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11543.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  15562268
  15575029
  12762
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11551.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11552.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11556.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  16090726
  16168455
  77730
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11564.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  16402657
  16415383
  12727
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  17896716
  17900377
  3662
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11571.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11575.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11601.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11615.s1
  10.7
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11616.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11634.s1
  9.9
  M
  Control (matched sibling)
  NA
  NA
  17133745
  17138926
  5182
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11638.s1
  14.4
  M
  Control (matched sibling)
  NA
  NA
  12896758
  12916449
  19692
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11644.s1
  14.2
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11676.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11707.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11740.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11753.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11792.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  17892790
  17896148
  3359
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11839.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11860.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  17893731
  17894657
  927
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11894.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11895.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  15926665
  15929380
  2716
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11911.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  13581199
  13746605
  165407
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11918.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11928.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11954.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  16405000
  16417176
  12177
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11982.s1
  5.1
  F
  Control (matched sibling)
  NA
  NA
  16405000
  16423062
  18063
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11998.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  17893685
  17895177
  1493
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12007.s1
  10.9
  M
  Control (matched sibling)
  NA
  NA
  18994964
  19006355
  11392
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12057.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  16405000
  16417176
  12177
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12063.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  17892721
  17894657
  1937
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12071.s1
  19.6
  M
  Control (matched sibling)
  NA
  NA
  16090726
  16168455
  77730
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12083.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12083.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17895198
  1971
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12115.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  14650667
  14656271
  5605
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12130.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12162.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12170.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  15569646
  15575029
  5384
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12187.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  17892790
  17895177
  2388
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12198.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12202.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  17893228
  17895177
  1950
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12206.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  17893685
  17894657
  973
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12210.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  18994964
  19006355
  11392
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12220.s1
  16.1
  M
  Control (matched sibling)
  NA
  NA
  17892738
  17894657
  1920
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12227.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  17893685
  17894657
  973
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12231.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  15562268
  15575029
  12762
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12231.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  16090726
  16163959
  73234
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12274.s1
  7.6
  F
  Control (matched sibling)
  NA
  NA
  16980783
  16985768
  4986
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12303.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12313.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  16573953
  16729259
  155307
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12314.s1
  8.2
  M
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12321.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  15795369
  16007938
  212570
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12358.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  16263658
  16318473
  54816
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12361.s1
  7.3
  M
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12366.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  17893685
  17895177
  1493
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12369.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  18994964
  19000777
  5814
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12373.s1
  11.7
  F
  Control (matched sibling)
  NA
  NA
  17892819
  17894657
  1839
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12373.s1
  11.7
  F
  Control (matched sibling)
  NA
  NA
  17896716
  17900377
  3662
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12376.s1
  14.7
  F
  Control (matched sibling)
  NA
  NA
  16953901
  16973543
  19643
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12380.s1
  17
  F
  Control (matched sibling)
  NA
  NA
  18994964
  19003973
  9010
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12382.s1
  12.4
  M
  Control (matched sibling)
  NA
  NA
  18994964
  19000777
  5814
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12407.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  17892790
  17894657
  1868
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12434.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12444.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12469.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12492.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  18994964
  19006355
  11392
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12512.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12518.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12540.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12555.s1
  18.9
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12568.s1
  15.7
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12573.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  17891588
  17900377
  8790
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12579.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  17892738
  17894657
  1920
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12598.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12617.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  17893685
  17894657
  973
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12623.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12626.s1
  16.3
  F
  Control (matched sibling)
  NA
  NA
  17892790
  17894657
  1868
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12626.s1
  16.3
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12637.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12653.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  18994964
  19008858
  13895
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12676.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12695.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  16953901
  16970001
  16101
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12715.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12722.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  14929851
  14933982
  4132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12722.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  17723646
  17724191
  546
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12758.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  17889791
  17896364
  6574
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12764.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12782.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12788.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  16090726
  16171983
  81258
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12810.s1
  13.7
  F
  Control (matched sibling)
  NA
  NA
  16090726
  16171561
  80836
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12829.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  18994964
  19006355
  11392
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12832.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12837.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  17892738
  17894657
  1920
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12865.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12879.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  18994964
  19006355
  11392
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12907.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  17723143
  17724191
  1049
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12933.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  17892738
  17894657
  1920
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12944.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12972.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  17892738
  17894657
  1920
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12976.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13001.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13005.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  18994964
  19006355
  11392
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13006.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13007.s1
  19.8
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13036.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13080.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13162.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  17723282
  17724191
  910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13166.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13195.s1
  10.1
  M
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13233.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13251.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13266.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  17893228
  17894657
  1430
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13296.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  16100124
  16109929
  9806
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 bacchelli_20_ASD_discovery_cases-caseAB118
 
 
 Maternal
 Simplex
 
 MSR1
 
 brandler_18_ASD_replication_cases-case3-0078-000
 No validation step reported
 
 Maternal
 
 
 DLC1
 
 chen_17_ASD_discovery_cases-caseU-1753
 RT-qPCR
 
 Paternal
 Simplex
 
 RNA5SP255,C8orf48,DLC1
 
 chung_11_ASD_discovery_cases-proband
 
 
 Maternal
 Simplex
 NA
 MSR1
 
 chung_11_ASD_discovery_cases-proband
 
 
 Paternal
 Simplex
 NA
 MSR1
 
 cucinotta_23_ASD_discovery_cases-case130
 
 
 Maternal
 
 
 MSR1
 
 cucinotta_23_ASD_discovery_cases-case364
 
 
 Paternal
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case13041_503
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case13218_2403
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14016_330
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14050_870
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14183_2990
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14193_3170
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case14200_3240
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14211_3380
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case14365_4790
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case14397_5060
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case18171_302
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case20109_1504002
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case20141_1396001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20180_1704001
 
 
 Unknown
 
 
 MTUS1
 
 engchuan_15_ASD_discovery_cases-case2176_101
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case3521_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4150_1
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case4174_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4238_1
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case4239_1
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case4428_1
 
 
 Unknown
 
 
 PSD3
 
 engchuan_15_ASD_discovery_cases-case5008_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5070_4
 
 
 Unknown
 
 
 PSD3
 
 engchuan_15_ASD_discovery_cases-case5293_5
 
 
 Unknown
 
 
 MTUS1
 
 engchuan_15_ASD_discovery_cases-case5323_3
 
 
 Unknown
 
 
 TUSC3
 
 engchuan_15_ASD_discovery_cases-case5350_3
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case5440_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5507_4
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case5557_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5557_3
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case6041_2
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case6130_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6152_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6329_3
 
 
 Unknown
 
 
 TUSC3
 
 engchuan_15_ASD_discovery_cases-case6404_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8488_202
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case8549_201
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case8623_201
 
 
 Unknown
 
 
 MSR1
 
 engchuan_15_ASD_discovery_cases-case8680_201
 
 
 Unknown
 
 
 TUSC3
 
 feliciano_19_ASD_discovery_cases-caseSP0002092
 
 
 Maternal
 
 
 MSR1
 null
 gai_11_ASD_discovery_cases-AU1332301
 
 
 Inherited
 
 
 SGCZ (intronic)
 
 gai_11_ASD_discovery_cases-AU1510302
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1512301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU002903
 
 
 Inherited
 
 
 SGCZ (intronic)
 
 gai_11_ASD_replication_cases-AU026804
 
 
 Inherited
 
 
 SGCZ (intronic)
 
 girirajan_12_ASD/DD/ID_discovery_cases-case36901
 FISH, aCGH, or confirmation by inheritance
 
 Maternal
 Unknown
 Unknown
 RN7SL474P,FGF20,MICU3,ZDHHC2
 
 girirajan_13a_ASD_discovery_cases-11141.p1
 
 
 Unknown
 Simplex
 Unknown
 RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,DLC1,SGCZ
 
 girirajan_13a_ASD_discovery_cases-11198.p1
 
 
 Unknown
 Simplex
 Unknown
 RNA5SP255,C8orf48,DLC1
 
 girirajan_13a_ASD_discovery_cases-11501.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 PPM1AP1,MRPL49P2,MSR1,TUSC3
 
 girirajan_13a_ASD_discovery_cases-13688.p1
 
 
 Unknown
 Simplex
 Unknown
 RNA5SP255,C8orf48,DLC1
 
 girirajan_13a_ASD_discovery_cases-13935.p1
 
 
 Unknown
 Simplex
 Unknown
 RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,DLC1,SGCZ
 
 girirajan_13a_ASD_discovery_cases-AU1536304
 
 
 Unknown
 Multiplex
 Unknown
 RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,DLC1,SGCZ
 
 han_22_ASD/DD/ID_discovery_cases-case15D2926
 
 
 Unknown
 
 
 MSR1
 
 han_22_ASD/DD/ID_discovery_cases-caseY11
 
 
 Unknown
 
 
 MSR1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000043
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MSR1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000777
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,DLC1,SGCZ
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002213
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 MSR1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002308
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RNA5SP255,C8orf48,DLC1,SGCZ
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002317
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MSR1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004656
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MRPL49P2,MSR1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005160
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MTND4LP26,NATP,ASAH1,NAT2,PCM1,NAT1
 
 kanduri_15_ASD_discovery_cases-case2991
 
 
 De novo
 Unknown
 Unknown
 Intergenic CNV: nearest genes, TUSC3(dist=160016),MSR1(dist=178498)
 
 krumm_13_ASD_discovery_cases-case11501.p1
 
 
 Maternal
 Simplex
 Not segregated
 PPM1AP1,MSR1,TUSC3
 
 krumm_13_ASD_discovery_cases-case13196.p1
 
 
 Maternal
 Simplex
 Segregated
 MSR1
 
 krumm_15_ASD_discovery_cases-case11141.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,DLC1,SGCZ
 
 krumm_15_ASD_discovery_cases-case11304.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 RNA5SP255,C8orf48,DLC1
 
 krumm_15_ASD_discovery_cases-case11501.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 PPM1AP1,MSR1,TUSC3
 
 krumm_15_ASD_discovery_cases-case11556.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 MSR1
 
 krumm_15_ASD_discovery_cases-case12130.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 MSR1
 
 krumm_15_ASD_discovery_cases-case13196.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 MSR1
 
 krumm_15_ASD_discovery_cases-case13350.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 MSR1
 
 krumm_15_ASD_discovery_cases-case13484.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 MSR1
 
 krumm_15_ASD_discovery_cases-case13616.p1
 1M-Duov3
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MSR1
 
 krumm_15_ASD_discovery_cases-case13688.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 RNA5SP255,C8orf48,DLC1
 
 krumm_15_ASD_discovery_cases-case13720.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MSR1
 
 krumm_15_ASD_discovery_cases-case14210.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 MSR1
 
 krumm_15_ASD_discovery_cases-case14228.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 MSR1
 
 krumm_15_ASD_discovery_cases-case14245.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MSR1
 
 krumm_15_ASD_discovery_cases-case14319.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 NATP,NAT2,NAT1
 
 kushima_22_SCZ_discovery_cases-caseSCZ0979
 qRT-PCR
 
 Unknown
 
 
 PCM1
 
 kushima_22_SCZ_discovery_cases-caseSCZ2498
 qRT-PCR
 
 Unknown
 
 
 FGL1,MTUS1,PCM1,MTUS1-DT
 
 leppa_16_ASD_discovery_cases-AU002903
 
 
 Maternal
 Multiplex
 Not segregated (CNV not present in affected sibling but is present in unaffected sibling AU002904)
 RNU6-397P,MIR383,SGCZ
 
 leppa_16_ASD_discovery_cases-AU1536304
 
 
 Paternal
 Multiplex
 Not segregated (CNV not present in affected sibling but is present in unaffected sibling AU153605)
 RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,DLC1,SGCZ
 
 leppa_16_ASD_discovery_cases-AU3862306
 
 
 Maternal
 Multiplex
 Not segregated (CNV not present in affected sibling)
 PPM1AP1,MRPL49P2,MSR1
 
 lesca_12_EP_discovery_cases-case13-19
 qPCR
 
 Maternal
 Unknown
 Unknown
 SGCZ
 
 levy_11_ASD_discovery_cases-11304.p1
 
 
 Maternal
 Simplex
 Segregated
 RNA5SP255,C8orf48,DLC1
 
 lintas_17_ASD_discovery_cases-case4.1
 Validation by visual inspection, RT-PCR, or PCR
 
 Maternal
 Multiplex
 Segregated (CNV observed in all both affected siblings)
 MSR1
 
 lintas_17_ASD_discovery_cases-case4.2
 Validation by visual inspection, RT-PCR, or PCR
 
 Maternal
 Multiplex
 Segregated (CNV observed in all both affected siblings)
 MSR1
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 
 
 Unknown
 Simplex
 Unknown
 TUSC3
 
 mahjani_22_OCD/CTD_discovery_cases-case21
 
 
 Unknown
 
 
 NATP,NAT1,NAT2,ASAH1,PCM1,MTND4LP26,PSD3
 
 mahjani_22_OCD/CTD_discovery_cases-case41
 
 
 Unknown
 
 
 NATP,NAT1,NAT2,ASAH1,PCM1,MTND4LP26,PSD3
 
 marshall_08_ASD_discovery_cases-SK0119-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 
 
 morrow_08_ASD_discovery_cases-case8001
 
 
 Paternal
 NA
 NA
 0 genes
 
 mosrati_12_ASD/MR_discovery_cases-caseV3
 
 
 Maternal
 Multiplex
 Unknown
 0 genes
 
 mosrati_12_ASD/MR_discovery_cases-caseV5
 
 
 Maternal
 Multiplex
 Unknown
 0 genes
 
 mulle_13_SCZ_discovery_cases_1-caseAJ_8211_1
 Solid phase hybridization
 
 Maternal
 Unknown
 Unknown
 RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,DLC1,SGCZ
 
 mulle_13_SCZ_discovery_cases_1-caseAJ_8773_1
 Solid phase hybridization
 
 Unknown
 Unknown
 Unknown
 RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,DLC1,SGCZ
 
 nava_13_ASD_discovery_cases-Fam1057Proband9942
 
 
 Maternal
 Simplex
 Unknown
 PSD3
 
 nava_13_ASD_discovery_cases-Fam625Proband7374
 
 
 Maternal
 Simplex
 Unknown
 ADAM24P,SLC7A2
 
 o'roak_12_ASD_discovery_cases-case11141.p1
 aCGH, Sanger sequencing
 
 Maternal
 Simplex (quad)
 Unknown
 RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,DLC1,SGCZ
 
 o'roak_12_ASD_discovery_cases-case11556.p1
 aCGH, Sanger sequencing
 
 Paternal
 Simplex (quad)
 Unknown
 MSR1
 
 o'roak_12_ASD_discovery_cases-case12130.p1
 aCGH, Sanger sequencing
 
 Maternal
 Simplex (quad)
 Unknown
 MSR1
 
 pfundt_16_NDD_discovery_cases-case27
 
 
 
 
 
 PPM1AP1,MSR1,TUSC3
 
 pinto_10_ASD_discovery_cases-case5008_3
 Agilent1M
 
 paternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5070_4
 Agilent1M
 
 maternal
 Multiplex
 Unknown
 PSD3
 
 pinto_10_ASD_discovery_cases-case5323_3
 Agilent1M
 
 paternal
 NA
 NA
 TUSC3
 
 poultney_13_ASD_discovery_cases-case00HI1452A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MSR1
 
 poultney_13_ASD_discovery_cases-case05HI3744A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MSR1
 
 poultney_13_ASD_discovery_cases-case05HI4009A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,DLC1,SGCZ
 
 poultney_13_ASD_discovery_cases-case99HI0718C
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MSR1
 
 prasad_12_ASD_discovery_cases-case104051L
 
 
 Unknown
 Unknown
 Unknown
 FGL1
 
 prasad_12_ASD_discovery_cases-case137917
 
 
 Unknown
 Unknown
 Unknown
 SGCZ
 
 prasad_12_ASD_discovery_cases-case142468
 
 
 Unknown
 Unknown
 Unknown
 KIAA1456
 
 prasad_12_ASD_discovery_cases-case149491L
 
 
 Unknown
 Unknown
 Unknown
 MTUS1,FGL1
 
 prasad_12_ASD_discovery_cases-case47097
 
 
 Unknown
 Unknown
 Unknown
 PSD3
 
 prasad_12_ASD_discovery_cases-case51524
 
 
 Unknown
 Unknown
 Unknown
 TUSC3
 
 prasad_12_ASD_discovery_cases-case58294L
 
 
 Unknown
 Simplex
 Unknown
 MTUS1
 
 prasad_12_ASD_discovery_cases-case58470L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case63727
 
 
 Unknown
 Unknown
 Unknown
 DLC1
 
 prasad_12_ASD_discovery_cases-case66673
 
 
 Unknown
 Multiplex
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case76436L
 
 
 Unknown
 Unknown
 Unknown
 PSD3
 
 prasad_12_ASD_discovery_cases-case82058L
 
 
 Unknown
 Unknown
 Unknown
 PSD3
 
 prasad_12_ASD_discovery_cases-case85170L
 
 
 Unknown
 Unknown
 Unknown
 KIAA1456
 
 quintela_17_DD/ID_discovery_cases-caseID_599
 
 
 Maternal
 
 Unknown
 PPM1AP1,TUSC3
 
 rosenfeld_10_ASD_discovery_cases-case2077
 FISH
 
 Maternal
 Unknown
 Unknown
 SGCZ
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1090-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MSR1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1346-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MSR1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1589-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MSR1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-156
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 NATP,NAT2
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-260
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MSR1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-290
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MSR1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-354
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MSR1
 
 sanders_11_ASD_discovery_cases-11001.p1
 
 
 Unknown
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-11001.p1
 
 
 Unknown
 Simplex (trio)
 NA
 MSR1
 
 sanders_11_ASD_discovery_cases-11006.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11008.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11012.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11017.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11033.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11039.p1
 
 
 Both parents
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-11044.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MTUS1
 
 sanders_11_ASD_discovery_cases-11049.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11049.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11051.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MSR1
 
 sanders_11_ASD_discovery_cases-11056.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11073.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11092.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11098.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11117.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11122.p1
 
 
 Both parents
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-11129.p1
 
 
 Paternal
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-11134.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MTUS1
 
 sanders_11_ASD_discovery_cases-11141.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,DLC1,SGCZ
 
 sanders_11_ASD_discovery_cases-11173.p1
 
 
 Maternal
 Simplex (trio)
 NA
 PSD3
 
 sanders_11_ASD_discovery_cases-11188.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-11189.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11202.p1
 
 
 Paternal
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-11252.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11263.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MSR1
 
 sanders_11_ASD_discovery_cases-11275.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SGCZ
 
 sanders_11_ASD_discovery_cases-11301.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SGCZ
 
 sanders_11_ASD_discovery_cases-11304.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNA5SP255,C8orf48,DLC1
 
 sanders_11_ASD_discovery_cases-11330.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11346.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11349.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11353.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-11360.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MIR383,SGCZ
 
 sanders_11_ASD_discovery_cases-11381.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11396.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11401.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11409.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-11415.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11421.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11432.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MSR1
 
 sanders_11_ASD_discovery_cases-11436.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11444.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11458.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11462.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11475.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11494.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SGCZ
 
 sanders_11_ASD_discovery_cases-11495.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11501.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PPM1AP1,MRPL49P2,MSR1,TUSC3
 
 sanders_11_ASD_discovery_cases-11510.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DLC1
 
 sanders_11_ASD_discovery_cases-11510.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11511.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11516.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 PSD3
 
 sanders_11_ASD_discovery_cases-11523.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11537.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11541.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11542.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11543.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TUSC3
 
 sanders_11_ASD_discovery_cases-11556.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MSR1
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11571.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11575.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11577.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 MTUS1
 
 sanders_11_ASD_discovery_cases-11587.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 PCM1
 
 sanders_11_ASD_discovery_cases-11590.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11592.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11601.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11612.p1
 
 
 Paternal
 Simplex (trio)
 NA
 TUSC3
 
 sanders_11_ASD_discovery_cases-11615.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11625.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TUSC3
 
 sanders_11_ASD_discovery_cases-11638.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11638.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 NAT1
 
 sanders_11_ASD_discovery_cases-11644.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11673.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11673.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SGCZ
 
 sanders_11_ASD_discovery_cases-11704.p1
 
 
 Unknown
 Simplex (trio)
 NA
 SLC7A2
 
 sanders_11_ASD_discovery_cases-11704.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-11707.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11710.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-11794.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11812.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-11812.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11845.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11860.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11869.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11879.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11879.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-11894.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11911.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DLC1
 
 sanders_11_ASD_discovery_cases-11913.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11914.p1
 
 
 Paternal
 Simplex (trio)
 NA
 PSD3
 
 sanders_11_ASD_discovery_cases-11916.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-11916.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11918.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11928.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11941.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11942.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-11962.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-11963.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11966.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11969.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-11972.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11979.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SGCZ
 
 sanders_11_ASD_discovery_cases-11981.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TUSC3
 
 sanders_11_ASD_discovery_cases-11982.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-11986.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-11995.p1
 
 
 Paternal
 Simplex (trio)
 NA
 PSD3
 
 sanders_11_ASD_discovery_cases-12007.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-12008.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-12028.p1
 
 
 Maternal
 Simplex (trio)
 NA
 PSD3
 
 sanders_11_ASD_discovery_cases-12029.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MSR1
 
 sanders_11_ASD_discovery_cases-12051.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-12071.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MSR1
 
 sanders_11_ASD_discovery_cases-12077.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12081.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-12087.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12103.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 FGL1
 
 sanders_11_ASD_discovery_cases-12115.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SGCZ
 
 sanders_11_ASD_discovery_cases-12117.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC7A2
 
 sanders_11_ASD_discovery_cases-12117.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12130.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MSR1
 
 sanders_11_ASD_discovery_cases-12162.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-12170.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-12187.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12198.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-12202.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12206.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12210.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-12215.p1
 
 
 Maternal
 Simplex (trio)
 NA
 PSD3
 
 sanders_11_ASD_discovery_cases-12220.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12221.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12239.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12255.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12257.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 PCM1
 
 sanders_11_ASD_discovery_cases-12261.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12264.p1
 
 
 Paternal
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-12271.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TUSC3
 
 sanders_11_ASD_discovery_cases-12287.p1
 
 
 Paternal
 Simplex (trio)
 NA
 TUSC3
 
 sanders_11_ASD_discovery_cases-12287.p1
 
 
 Both parents
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-12299.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12306.p1
 
 
 Paternal
 Simplex (trio)
 NA
 MTUS1
 
 sanders_11_ASD_discovery_cases-12313.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12314.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12316.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12321.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PPM1AP1
 
 sanders_11_ASD_discovery_cases-12323.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12329.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-12341.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12350.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-12358.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MSR1
 
 sanders_11_ASD_discovery_cases-12361.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12369.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-12373.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12376.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12381.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12382.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-12414.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-12418.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12423.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 MSR1
 
 sanders_11_ASD_discovery_cases-12424.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12444.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12478.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12480.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 SGCZ
 
 sanders_11_ASD_discovery_cases-12494.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-12497.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12540.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-12555.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12558.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-12565.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-12568.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12573.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12579.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12598.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-12622.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 FGL1
 
 sanders_11_ASD_discovery_cases-12623.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-12624.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12629.p1
 
 
 Paternal
 Simplex (trio)
 NA
 TRMT9B
 
 sanders_11_ASD_discovery_cases-12637.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12653.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-12657.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12715.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12722.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-12754.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MTUS1
 
 sanders_11_ASD_discovery_cases-12759.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12764.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-12786.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MSR1
 
 sanders_11_ASD_discovery_cases-12831.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MTUS1
 
 sanders_11_ASD_discovery_cases-12832.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12837.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12858.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12878.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MTUS1
 
 sanders_11_ASD_discovery_cases-12879.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-12892.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-12924.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-12925.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-12961.p1
 
 
 Paternal
 Simplex (trio)
 NA
 PSD3
 
 sanders_11_ASD_discovery_cases-12961.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MTUS1
 
 sanders_11_ASD_discovery_cases-13005.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PSD3
 
 sanders_11_ASD_discovery_cases-13007.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-13013.p1
 
 
 Paternal
 Simplex (trio)
 NA
 MSR1
 
 sanders_11_ASD_discovery_cases-13045.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-13072.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-13079.p1
 
 
 Paternal
 Simplex (trio)
 NA
 MSR1
 
 sanders_11_ASD_discovery_cases-13080.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-13085.p1
 
 
 Both parents
 Simplex (trio)
 NA
 MTUS1
 
 sanders_11_ASD_discovery_cases-13097.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-13159.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-13162.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-13162.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MTUS1
 
 sanders_11_ASD_discovery_cases-13166.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-13169.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-13192.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 MSR1
 
 sanders_11_ASD_discovery_cases-13195.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-13196.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MSR1
 
 sanders_11_ASD_discovery_cases-13199.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FGL1
 
 sanders_11_ASD_discovery_cases-13226.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13233.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-13266.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FGL1
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MSR1
 
 schmitz-abe_20_ASD_discovery_cases-caseAU-22901
 qPCR
 
 Both parents
 Simplex
 Segregated
 MSR1
 
 schmitz-abe_20_ASD_discovery_cases-caseAU-3301
 qPCR
 
 Both parents
 Unknown
 Not segregated
 PSD3
 
 szatmari_07_ASD_discovery_cases-NAAR041-F5-00C03537
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 SGCZ
 
 szatmari_07_ASD_discovery_cases-NAAR041-G2-00C04611
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 SGCZ
 
 toma_13_ASD_discovery_cases-caseSJD_50.3
 qPCR
 
 Inherited
 Multiplex
 Incomplete segregation (2/3 affected siblings with ASAH1 deletion)
 ASAH1
 
 toma_13_ASD_discovery_cases-caseSJD_50.4
 qPCR
 
 Inherited
 Multiplex
 Incomplete segregation (2/3 affected siblings with ASAH1 deletion)
 ASAH1
 
 woodbury-smith_14_ASD_discovery_cases-case3
 
 
 Unknown
 Extended multiplex
 Unknown
 DLC1
 
 xu_16_ASD/DD/ID_discovery_cases-case26
 
 
 Unknown
 
 
 C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,DLC1,SGCZ
 
 yingjun_17_ASD_discovery_cases-case7032
 N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
 
 Unknown
 Unknown
 Unknown
 MIR548V,RNA5SP256,PDGFRL,FGL1,SLC7A2,MTUS1
 
 yin_16_ASD_discovery_cases-case307
 
 
 Unknown
 Unknown
 Unknown
 RNA5SP255,C8orf48,DLC1
 
 yin_16_ASD_discovery_cases-case308
 
 
 Unknown
 Unknown
 Unknown
 SGCZ
 
 yin_16_ASD_discovery_cases-case309
 
 
 Unknown
 Unknown
 Unknown
 ADAM24P,PDGFRL,SLC7A2
 
 yuan_23_ASD_discovery_cases-qma01681s000
 
 
 De novo
 
 
 FGL1,MTUS1,ADAM24P,MIR548V,RNA5SP256,PCM1,PDGFRL,MTUS1-DT,SLC7A2,MTMR7
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036017630_
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-control110036018182_
 
 
  Unknown
 
 
  PSD3
 
engchuan_15_ASD_discovery_controls-control110036020154_
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-control110036022705_
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlB272356_1007841423
 
 
  Unknown
 
 
  RNA5SP255,C8orf48,DLC1
 
engchuan_15_ASD_discovery_controls-controlB295219_1007872186
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB301469_1007854697
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlB326294_1007873306
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlB421125_1007874266
 
 
  Unknown
 
 
  TUSC3
 
engchuan_15_ASD_discovery_controls-controlB561892_1007853627
 
 
  Unknown
 
 
  RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,DLC1,SGCZ
 
engchuan_15_ASD_discovery_controls-controlB599757_1007875362
 
 
  Unknown
 
 
  TUSC3
 
engchuan_15_ASD_discovery_controls-controlB609066_1007854342
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB618506_1007853744
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlB640981_1007874885
 
 
  Unknown
 
 
  SGCZ
 
engchuan_15_ASD_discovery_controls-controlB646037_1007875322
 
 
  Unknown
 
 
  NATP,NAT2
 
engchuan_15_ASD_discovery_controls-controlB772297_1007873646
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB779589_1007853847
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlB970964_1007842336
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_900023_900023
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_900127_900127
 
 
  Unknown
 
 
  DLC1
 
engchuan_15_ASD_discovery_controls-controlHABC_900136_900136
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900282_900282
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_900338_900338
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900394_900394
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_900456_900456
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_900489_900489
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_900499_900499
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900554_900554
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_900596_900596
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_900740_900740
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_901038_901038
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_901038_901038
 
 
  Unknown
 
 
  SGCZ
 
engchuan_15_ASD_discovery_controls-controlHABC_901191_901191
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_901206_901206
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_902430_902430
 
 
  Unknown
 
 
  MTND4P7,DLC1
 
engchuan_15_ASD_discovery_controls-controlHABC_902496_902496
 
 
  Unknown
 
 
  MSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_902650_902650
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902677_902677
 
 
  Unknown
 
 
  MSR1
 
kanduri_15_ASD_discovery_controls-control_split1184
 
 
  Unknown
 
 
  PSD3 (intronic)
 
kanduri_15_ASD_discovery_controls-control_split1532
 
 
  Unknown
 
 
  CNOT7,VPS37A,ZDHHC2
 
kanduri_15_ASD_discovery_controls-control_split197
 
 
  Unknown
 
 
  PSD3
 
kanduri_15_ASD_discovery_controls-control_split2109
 
 
  Unknown
 
 
  MSR1
 
kanduri_15_ASD_discovery_controls-control_split545
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, TUSC3(dist=160016),MSR1(dist=178498)
 
kanduri_15_ASD_discovery_controls-control_split624
 
 
  Unknown
 
 
  MSR1,TUSC3
 
krumm_13_ASD_discovery_controls-control11501.s1
 
 
  Maternal
  Simplex
 
  PPM1AP1,MSR1,TUSC3
 
krumm_13_ASD_discovery_controls-control12810.s1
 
 
  Maternal
  Simplex
 
  MSR1
 
krumm_15_ASD_discovery_controls-control11501.s1
  Illumina 1M
 
  Maternal
 
 
  PPM1AP1,MSR1,TUSC3
 
krumm_15_ASD_discovery_controls-control12231.s1
  Illumina 1MDuo
 
  Paternal
 
 
  MSR1
 
krumm_15_ASD_discovery_controls-control12788.s1
  Illumina 1MDuo
 
  Maternal
 
 
  MSR1
 
krumm_15_ASD_discovery_controls-control12810.s1
  Illumina 1MDuo
 
  Maternal
 
 
  MSR1
 
krumm_15_ASD_discovery_controls-control13534.s1
  1M-Duov3
 
  Maternal
 
 
  MSR1
 
krumm_15_ASD_discovery_controls-control13616.s2
  1M-Duov3
 
  Paternal
 
 
  MSR1
 
krumm_15_ASD_discovery_controls-control13720.s1
  Omni2.5-4v1
 
  Paternal
 
 
  MSR1
 
krumm_15_ASD_discovery_controls-control14245.s1
  Omni2.5-4v1
 
  Paternal
 
 
  MSR1
 
krumm_15_ASD_discovery_controls-control14417.s1
  Omni2.5-4v1
 
  Maternal
 
 
  PSD3
 
leppa_16_ASD_discovery_controls-AU002904
 
 
  Maternal
  Multiplex
 
  RNU6-397P,MIR383,SGCZ
 
leppa_16_ASD_discovery_controls-AU1536305
 
 
  Paternal
  Multiplex
 
  RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,DLC1,SGCZ
 
nord_11_ASD_discovery_controls-04C28409
 
 
 
 
 
  0 genes
 
poultney_13_ASD_discovery_controls-control04C29071A
 
 
  Unknown
 
 
  MSR1
 
poultney_13_ASD_discovery_controls-control04C33887A
 
 
  Unknown
 
 
  MSR1
 
poultney_13_ASD_discovery_controls-control05C41778
 
 
  Unknown
 
 
  TUSC3
 
poultney_13_ASD_discovery_controls-control05C44482
 
 
  Unknown
 
 
  MSR1
 
sanders_11_ASD_discovery_controls-11002.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11017.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11056.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11073.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11094.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11098.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11158.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11176.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11189.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11220.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11234.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MSR1
 
sanders_11_ASD_discovery_controls-11246.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11252.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11296.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11301.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SGCZ
 
sanders_11_ASD_discovery_controls-11345.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MSR1
 
sanders_11_ASD_discovery_controls-11349.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11360.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR383,SGCZ
 
sanders_11_ASD_discovery_controls-11367.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11391.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11396.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11399.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11455.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MSR1
 
sanders_11_ASD_discovery_controls-11459.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11466.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11474.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11495.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11501.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PPM1AP1,MRPL49P2,MSR1,TUSC3
 
sanders_11_ASD_discovery_controls-11523.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11524.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11537.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11542.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11543.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TUSC3
 
sanders_11_ASD_discovery_controls-11551.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11552.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11556.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MSR1
 
sanders_11_ASD_discovery_controls-11564.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MSR1
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11571.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11575.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11601.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11615.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11616.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11634.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11638.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11644.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11676.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11707.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11740.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11753.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11792.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11839.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11860.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11894.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11895.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11911.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DLC1
 
sanders_11_ASD_discovery_controls-11918.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-11928.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-11954.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MSR1
 
sanders_11_ASD_discovery_controls-11982.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MSR1
 
sanders_11_ASD_discovery_controls-11998.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12007.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PSD3
 
sanders_11_ASD_discovery_controls-12057.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MSR1
 
sanders_11_ASD_discovery_controls-12063.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12071.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MSR1
 
sanders_11_ASD_discovery_controls-12083.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-12083.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12115.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SGCZ
 
sanders_11_ASD_discovery_controls-12130.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MSR1
 
sanders_11_ASD_discovery_controls-12162.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-12170.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TUSC3
 
sanders_11_ASD_discovery_controls-12187.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12198.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-12202.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12206.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12210.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PSD3
 
sanders_11_ASD_discovery_controls-12220.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12227.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12231.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TUSC3
 
sanders_11_ASD_discovery_controls-12231.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MSR1
 
sanders_11_ASD_discovery_controls-12274.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12303.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12313.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12314.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12321.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PPM1AP1
 
sanders_11_ASD_discovery_controls-12358.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MSR1
 
sanders_11_ASD_discovery_controls-12361.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12366.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12369.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PSD3
 
sanders_11_ASD_discovery_controls-12373.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12373.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12376.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12380.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PSD3
 
sanders_11_ASD_discovery_controls-12382.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PSD3
 
sanders_11_ASD_discovery_controls-12407.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12434.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-12444.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12469.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-12492.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PSD3
 
sanders_11_ASD_discovery_controls-12512.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12518.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12540.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-12555.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12568.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12573.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12579.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12598.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-12617.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12623.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12626.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12626.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-12637.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12653.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PSD3
 
sanders_11_ASD_discovery_controls-12676.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-12695.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12715.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12722.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SGCZ
 
sanders_11_ASD_discovery_controls-12722.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-12758.s1
 
 
  Unknown
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12764.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-12782.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-12788.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MSR1
 
sanders_11_ASD_discovery_controls-12810.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MSR1
 
sanders_11_ASD_discovery_controls-12829.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PSD3
 
sanders_11_ASD_discovery_controls-12832.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12837.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12865.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12879.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PSD3
 
sanders_11_ASD_discovery_controls-12907.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-12933.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12944.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-12972.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-12976.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-13001.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-13005.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PSD3
 
sanders_11_ASD_discovery_controls-13006.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-13007.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-13036.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-13080.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-13162.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MTUS1
 
sanders_11_ASD_discovery_controls-13166.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-13195.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-13233.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-13251.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-13266.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGL1
 
sanders_11_ASD_discovery_controls-13296.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MSR1
 

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