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20q13.33CNV Type: Deletion-Duplication


Largest CNV size: 1427661 bp

Statistics Box:
Number of Reports: 33


Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Array comparative genomic hybridization findings in a cohort referred for an autism evaluation.
Duplication
De novo rates and selection of large copy number variation.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
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
Excess of rare, inherited truncating mutations in autism.
N/A
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
NA
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Contribution of SHANK3 mutations to autism spectrum disorder.
Duplication
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
NA
Duplication
NA
Duplication
NA
Duplication
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Deletion
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 13062
 2
 1
 3
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 1148
 1
 2
 3
 chaves_19_ASD/DD/ID_discovery_cases
  NA NA
 Patients from the south of Brazil with neurodevelopmental disorders
 420
 Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
 Range, 0-49 years (mean 9.5 9.73 years)
 61.90% Male
 200719
 0
 1
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 4400000
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 68456
 5
 1
 6
 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
 
 
 60423
 2
 0
 2
 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
 
 
 44502
 1
 0
 1
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 829622
 0
 1
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 910581
 0
 5
 5
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 1819178
 1
 1
 2
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 271895
 2
 2
 4
 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
 1790261
 7
 4
 11
 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
 11522
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 51062
 N/A
 N/A
 3
 larson_17_ASD_discovery_cases
  NA NA
 Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
 116
 All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
 N/A
 N/A
 24010
 0
 2
 2
 lee_17_ASD/DD/ID/MCA_discovery_cases
 Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
 42
 Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
 Range, newborn-38 yrs.
 69.05% Male
 308986
 0
 1
 1
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
 Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
 89985
 64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
 N/A
 N/A
 489836
 0
 1
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 1427661
 0
 1
 1
 moessner_07_ASD_discovery_cases
 Unrelated subjects recruited from Hospital for Sick Children, Toronto (225), and child diagnostic centers in Hamilton (100) and Newfoundland (75). 62% multiplex, 38% simplex. Possible sample overlap with Marshall et al., 2008 CNV report.
 400
 ASD
 
 
 1400000
 0
 1
 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)
 
 
 7000
 1
 0
 1
 oikonomakis_16_ASD_discovery_cases
 ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
 195
 Cases assessed for ASD according to DSM-IV behavioral criteria
 Range, 1-38 yrs.
 64.61% Male
 99000
 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
 
 
 60423
 1
 0
 1
 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)
 125530
 2
 1
 3
 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
 1470397
 4
 1
 5
 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
 1179228
 1
 0
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 87037
 22
 15
 37
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 1204000
 1
 0
 1
 schaefer_10_ASD_discovery_cases
 Patients selected for aCGH studies between 2005 and 2007 at Human Genetics Laboratory at Univ. of Nebraska
 68
 Primary indication noted on request form of autism. 54 patients with simple (non-syndromic) autism, 14 patients with complex (syndromic) autism.
 
 
 NA
 0
 1
 1
 stamouli_18_ASD/NDD_discovery_cases
  NA NA
 Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
 N/A
 N/A
 13385
 0
 1
 1
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 990000
 1
 0
 1
 verberne_22_ASD/DD/ID_discovery_cases
 Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
 331
 Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
 Range, 0-18.7 yrs. (median age 3.95 yrs.)
 NA
 160483
 1
 0
 1
 yap_21_ASD_discovery_cases
 ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
 723
 Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
 Range, 2-17 yrs.
 NA
 497011
 2
 0
 2
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 90041
 1
 0
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 982000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_controls
 Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
 630
 Control
 N/A
 N/A
 13062
 3
 0
 3
 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
 129570
 5
 3
 8
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 829622
 NA
 NA
 NA
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 403020
 0
 4
 4
 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
 19757
 3
 2
 5
 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
 51708
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 61988
 1
 3
 4
 larson_17_ASD_discovery_controls
  NA NA
 Entries listed in the Database of Genomic Variants (up to October 2017)
 N/A
 Control
 N/A
 N/A
 24010
 0
 0
 0
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 21045
 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)
 404309
 1
 0
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 1470397
 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.
 
 68034
 22
 18
 40
 stamouli_18_ASD/NDD_discovery_controls
  NA NA
 Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
 N/A
 N/A
 36425
 1
 1
 2
 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
 90041
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 chaves_19_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 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_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 None
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 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_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 larson_17_ASD_discovery_cases
  United Kingdom
 Array SNP
  Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
 SNP-FASST2 Segmentation
 Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
 None
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP, solid phase hybridization
  Multiple platforms (Agilent, Affymetrix, Illumina)
 
 
 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
 moessner_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 500K
 
 
 
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 oikonomakis_16_ASD_discovery_cases
  Greece
 aCGH
  Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
 
 
 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
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None
 schaefer_10_ASD_discovery_cases
 
 aCGH
  Spectral Genomics Constitutional Array, Spectral Chip 2600 Array (1 Mb)
 
 GenePix Pro 6.0, SpectralWare CGH analysis software
 FISH
 stamouli_18_ASD/NDD_discovery_cases
  Swedish
 Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
 PennCNV, QuantiSNP, iPattern, iPsychCNV
 
 None
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None
 verberne_22_ASD/DD/ID_discovery_cases
  Dutch Caribbean
 CMA
  NA
 NA
 NA
 None
 yap_21_ASD_discovery_cases
  Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
 Solid phase hybridization
  Illumina Global Screening Array v1 and v2
 PennCNV, iPattern
 GenomeStudio v.2.0.4
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_discovery_controls
  N/A
  WGS
  Illumina HiSeq X10 or HiSeq 2500
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  PCR, array SNP
  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_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  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
 
 
  stamouli_18_ASD/NDD_discovery_controls
  Swedish
  Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
  PennCNV, QuantiSNP, iPattern, iPsychCNV
 
  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
  brandler_18_ASD_discovery_cases-caseSSC08908
 N/A
 M
 ASD
 Case from SSC_phase1 cohort
 
 64241492
 64254554
  13063
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_discovery_cases-caseSSC10970
 N/A
 F
 ASD
 Case from SSC cohort
 
 60194828
 60206987
  12160
 GRCh38
 Duplication
 Yes
  brandler_18_ASD_discovery_cases-caseSSC12538
 N/A
 M
 ASD
 Case from SSC_phase1 cohort
 
 63440710
 63444546
  3837
 GRCh38
 Deletion
 Yes
  celestino-soper_11_ASD_discovery_cases-11063
 NA
 M
 ASD
 NA
 NA
 62317504
 62317558
  55
 GRCh38
 Duplication
 No
  celestino-soper_11_ASD_discovery_cases-11189
 NA
 M
 ASD
 NA
 NA
 62317504
 62317558
  55
 GRCh38
 Duplication
 No
  celestino-soper_11_ASD_discovery_cases-11399
 NA
 M
 ASD
 NA
 NA
 63969223
 63970371
  1149
 GRCh38
 Deletion
 No
  chaves_19_ASD/DD/ID_discovery_cases-case32
  NA NA
 N/A
 M
 Dysmorphic features
 Convulsions, low weight, prematurity, facial dysmorphism, microcephaly and tracheoesophageal fistula
 
 63222884
 63423602
  200719
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_283326
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 59867726
 64261836
  4394111
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case13032_414
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 62744775
 62780821
  36047
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1968_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 61447104
 61507526
  60423
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2200_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60418799
 60487255
  68457
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3109_7
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 61447104
 61507526
  60423
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5255_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 61447104
 61507526
  60423
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case9748_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63019990
 63075398
  55409
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1641301
 
 
 Autism
 
 
 61447104
 61507526
  60423
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1909304
 
 
 Autism
 
 
 61447104
 61507526
  60423
 GRCh38
 Deletion
 No
  gai_11_ASD_replication_cases-AU033803
 
 
 Autism
 
 
 60811731
 60856232
  44502
 Unknown
 Deletion
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case44153
 14 yrs.
 F
 Developmental delay
 Behavioral problems: tantrums, self-pinching. Normal tone. Dysmorphic features: tall forehead, ptosis, downturned mouth, retrognathia, long neck. Congenital anomalies: mild scoliosis. Growth parameters: weight 50th-75th %ile, height >97th %ile, OFC unknown. Family history: half-brothers with learning disability or schizophrenia.
 Mild developmental delay and learning disability
 62984213
 63813835
  829623
 GRCh38
 Duplication
 Yes
  girirajan_13b_ASD_discovery_cases-3007107649
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 64010382
 64316582
  306201
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-45905104126
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 63943411
 64316582
  373172
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-9106105625
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 63943411
 64316582
  373172
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-9505103679
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 61828867
 62466853
  637987
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-9505103679
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 63406001
 64316582
  910582
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case22
 1 yr 11 mos.
 M
 Developmental delay
 Congenital heart disease (long QT syndrome). Karyotype: 9phqh, 22ps.
 Severe developmental delay
 62235676
 63998557
  1762882
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case31
 2 yrs. 5 mos.
 F
 Intellectual disability
 Speech delay, short stature, flat nasal bridge, muscle hypotonia, MRI abnormalities. Karyotype: 15phqh.
 Intellectual disability
 61780471
 61919473
  139003
 GRCh38
 Deletion
 No
  itsara_10_ASD_discovery_cases-HI1892
 NA
 NA
 NQA (not quite autism)
 NA
 NA
 62846860
 63118755
  271896
 GRCh38
 Duplication
 Yes
  itsara_10_ASD_discovery_cases-HI2592
 NA
 NA
 Autism
 NA
 NA
 63221277
 63268953
  47677
 GRCh38
 Deletion
 Yes
  itsara_10_ASD_discovery_cases-HI2991
 NA
 NA
 Autism
 NA
 NA
 62954827
 62974966
  20140
 GRCh38
 Deletion
 Yes
  itsara_10_ASD_discovery_cases-HI4468
 NA
 NA
 Autism
 NA
 NA
 63486715
 63566995
  80281
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000846
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 64157529
 64277321
  119793
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000968
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 63827808
 64100279
  272472
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001084
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 63199020
 64277321
  1078302
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001651
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 62455231
 63839491
  1384261
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002289
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 63448830
 63673793
  224964
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002596
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 64206685
 64261836
  55152
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004144
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 62545370
 64241486
  1696117
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004470
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 62561794
 63331723
  769930
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004664
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 63095686
 63524980
  429295
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004875
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 64140190
 64277321
  137132
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005216
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 63441478
 64277321
  835844
 GRCh38
 Deletion
 Yes
  kanduri_15_ASD_discovery_cases-case2953
 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.
 
 59569516
 59581037
  11522
 Unknown
 Duplication
 No
  kanduri_15_ASD_discovery_cases-case2974
 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.
 
 59577569
 59581037
  3469
 Unknown
 Duplication
 No
  krumm_15_ASD_discovery_cases-case12722.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 62709207
 62760269
  51063
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13842.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type:
 
 62003730
 62012934
  9205
 GRCh38
 N/A
 Yes
  krumm_15_ASD_discovery_cases-case13920.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 62944738
 62967500
  22763
 GRCh38
 Duplication
 Yes
  larson_17_ASD_discovery_cases-case1
  NA NA
 N/A
 F
 ASD and psychosis
 Female, normal range IQ, onset 20s, atypical psychosis, find more data (1834EW). CNV not reported in DGV.
 IQ with normal range
 61270304
 61294314
  24011
 GRCh38
 Duplication
 No
  larson_17_ASD_discovery_cases-case2
  NA NA
 N/A
 F
 ASD and psychosis
 Female, above average IQ, age of onset 20s, atypical psychosis (no consensus diagnosis). CNV not reported in DGV.
 Above average IQ
 61270304
 61294314
  24011
 GRCh38
 Duplication
 No
  lee_17_ASD/DD/ID/MCA_discovery_cases-case6
 9 yrs.
 M
 Intellectual disability
 
 Intellectual disability
 63282873
 63591858
  308986
 GRCh38
 Duplication
 No
  lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
 N/A
 M
 ASD and developmental delay
 Autism/autistic behavior, developmental delay
 
 60875211
 61365046
  489836
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-MM0109-003
 NA
 F
 ASD
 nonverbal, severe repetitive behavior, mild dysmorphism
 IQ/LOF 27
 62847542
 64275203
  1427662
 GRCh38
 Duplication
 Yes
  moessner_07_ASD_discovery_cases-case1
 NA
 F
 ASD
 Nonverbal speech, poor social interaction, repetitive behaviors
 Global developmental delay
 62847542
 64275203
  1427662
 GRCh38
 Duplication
 No
  morrow_08_ASD_discovery_cases-case1802
 NA
 
 ASD
 NA
 NA
 58951000
 58958000
  7000
 Unknown
 Deletion
 No
  oikonomakis_16_ASD_discovery_cases-case145
 2 yrs.
 F
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: frontal bossing, flat nasal bridge, high arched palate, long philtrum, hypotonia
 ID
 63331723
 64317796
  986074
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5255_3
 NA
 M
 ASD
 NA
 NA
 61447104
 61507526
  60423
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case00HI1721A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU072904; NDAR ID NDAR_INVCY019GUD)
 
 64259964
 64273602
  13639
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case01HI1892A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU021004; NDAR ID NDAR_INVBP724EAM)
 
 62841973
 62967502
  125530
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case98HI0391A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU003304; NDAR ID NDAR_INVTT086DLY)
 
 63319058
 63356086
  37029
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case123295
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 59448532
 59502959
  54428
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case157926
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 59510276
 59537667
  27392
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case46486
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 60949138
 62419534
  1470397
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case71118
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 61476027
 61493328
  17302
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case94078
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 59453914
 59516775
  62862
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1616-0
 N/A
 N/A
 ACC-CBLH-PMG
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: no. Seizures: unknown.
 Developmental delay: yes. Intellectual disability: unknown.
 63145133
 64324360
  1179228
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11025.p1
 4.6
 F
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
 61715436
 61740822
  25387
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11045.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
 60994460
 61005981
  11522
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11096.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 95
 60994460
 61014216
  19757
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11144.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
 60994460
 61005981
  11522
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11179.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 41
 62325425
 62355548
  30124
 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
 61447104
 61507526
  60423
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11227.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
 60538543
 60546398
  7856
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11290.p1
 11.3
 M
 ASD
 NA
 Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 115
 61569296
 61576244
  6949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11410.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 74; verbal IQ, 40
 60994460
 61014216
  19757
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11413.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 104; verbal IQ, 102
 60994460
 61014216
  19757
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11415.p1
 11.6
 M
 ASD
 NA
 Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 76
 60994460
 61014216
  19757
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11425.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 104; verbal IQ, 102
 60994460
 61014216
  19757
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11439.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
 63754126
 63816625
  62500
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11439.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
 62299916
 62378340
  78425
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11498.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 102; verbal IQ, 110
 60994460
 61005981
  11522
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11563.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
 60378149
 60382601
  4453
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11806.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102
 64313694
 64324360
  10667
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11811.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 80
 60538543
 60547635
  9093
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11859.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 49; verbal IQ, 47
 62158583
 62182433
  23851
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11938.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
 63864109
 63878172
  14064
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12006.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 104; verbal IQ, 50
 60538543
 60547635
  9093
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12009.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
 64118407
 64159119
  40713
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12052.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
 62158583
 62175889
  17307
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12072.p1
 15.6
 F
 Autism
 NA
 Full-scale IQ, 139; non-verbal IQ, 116; verbal IQ, 167
 60538543
 60547635
  9093
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12083.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
 62158583
 62175889
  17307
 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
 62325178
 62332390
  7213
 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
 60994460
 61005981
  11522
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12180.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
 61002513
 61014216
  11704
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12303.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 74; verbal IQ, 96
 61002513
 61005981
  3469
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12312.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 80; verbal IQ, 70
 60994460
 61014216
  19757
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12325.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 81
 60995315
 61014216
  18902
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12325.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 81
 60538543
 60547635
  9093
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12360.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
 60538543
 60547635
  9093
 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
 62700093
 62787130
  87038
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12736.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 111; verbal IQ, 86
 62166576
 62171557
  4982
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12743.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 114; verbal IQ, 108
 62158583
 62185749
  27167
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13067.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 99; verbal IQ, 88
 61569296
 61596937
  27642
 GRCh38
 Deletion
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case47
 1 mo.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability
 
 63072892
 64277321
  1204430
 GRCh38
 Deletion
 No
  schaefer_10_ASD_discovery_cases-case8
 NA
 F
 Autism
 Complex (syndromic) autism. Developmental and speech delays, hypotonia, self-injurious behavior, hand-washing behaviors. Esotropia, significant ptosis,
 Mental retardation
 NA
 NA
  NA
 Unknown
 Duplication
 Yes
  stamouli_18_ASD/NDD_discovery_cases-family39_Twin_2
  NA NA
 N/A
 N/A
 ASD/NDD
 Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
 
 62310784
 62324168
  13385
 GRCh38
 Duplication
 No
  tzetis_12_DD/ID_discovery_cases-case50
 2 yrs.
 F
 ASD
 Microcephaly, upslanting palpebral fissures, hypertelorism, micrognathia, ASD
 
 63331723
 64317796
  986074
 GRCh38
 Deletion
 No
  verberne_22_ASD/DD/ID_discovery_cases-case571
 NA
 M
 Seizures
 Seizures, microcephaly
 
 63356061
 63516543
  160483
 GRCh38
 Deletion
 No
  yap_21_ASD_discovery_cases-case4406296
 NA
 M
 ASD
 
 
 63193154
 63690164
  497011
 GRCh38
 Deletion
 No
  yap_21_ASD_discovery_cases-case4406297
 NA
 M
 ASD
 
 
 63171246
 63637602
  466357
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case591
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 59847994
 59938034
  90041
 GRCh38
 Deletion
 No
  yuen_17_ASD_discovery_cases-case2-0109-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
 
 62848648
 63830647
  982000
 GRCh38
 Duplication
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_controls-controlREACH000548
  N/A
  M
  Control
  Control from REACH cohort
 
  62355598
  62355855
  258
  GRCh38
  Deletion
  Yes
  brandler_18_ASD_discovery_controls-controlREACH000551
  N/A
  M
  Control
  Control from REACH cohort
 
  62355598
  62355855
  258
  GRCh38
  Deletion
  Yes
  brandler_18_ASD_discovery_controls-controlSSC08921
  N/A
  F
  Control
  Control from SSC_phase1 cohort
 
  64241492
  64254554
  13063
  GRCh38
  Deletion
  Yes
  engchuan_15_ASD_discovery_controls-control110036016178_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  64194790
  64324360
  129571
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB225400_1007852906
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63019990
  63075398
  55409
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB904265_1007873471
  N/A
  N/A
  Control
  No previous psychiatric history
 
  61590949
  61621027
  30079
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB904265_1007873471
  N/A
  N/A
  Control
  No previous psychiatric history
 
  61403700
  61450991
  47292
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900106_900106
  N/A
  N/A
  Control
  No previous psychiatric history
 
  62746339
  62780821
  34483
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900391_900391
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63238474
  63305944
  67471
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900770_900770
  N/A
  N/A
  Control
  No previous psychiatric history
 
  64235606
  64324360
  88755
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900979_900979
  N/A
  N/A
  Control
  No previous psychiatric history
 
  61447104
  61507526
  60423
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-10809111031
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  63406001
  63809021
  403021
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-20308109922
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  63406001
  63809021
  403021
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-3008108929
  N/A
  N/A
  Control
  Ethnicity: Asian
  N/A
  64010382
  64316582
  306201
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-6106105636
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  64010382
  64316582
  306201
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1399
  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
 
  59113601
  59122693
  9093
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split163
  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
 
  59577569
  59589272
  11704
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1800
  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
 
  59569516
  59589272
  19757
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1931
  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
 
  59113601
  59122693
  9093
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1977
  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
 
  59113601
  59122693
  9093
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11196.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11196. SRS score of 53.
 
  64221892
  64273600
  51709
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13621.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  63521308
  63532687
  11380
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13920.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  62944738
  63006726
  61989
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13962.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  63297909
  63329658
  31750
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14285.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  64259965
  64273600
  13636
  GRCh38
  Duplication
  Yes
  nord_11_ASD_discovery_controls-04C27212
 
 
  Control
 
 
  60552662
  60573706
  21045
  Unknown
  Deletion
 
  poultney_13_ASD_discovery_controls-control05C46117
  N/A
  F
  Control
  NIMH Control (NIMH ID 16487)
 
  63869294
  64273602
  404309
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11017.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  63392922
  63397717
  4796
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11028.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  60994460
  61005981
  11522
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11030.s1
  5.3
  F
  Control (matched sibling)
  NA
  NA
  60990189
  61005981
  15793
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11067.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  60535052
  60546398
  11347
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11096.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  60994460
  61005981
  11522
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11121.s1
  16.2
  F
  Control (matched sibling)
  NA
  NA
  60994460
  61014216
  19757
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11189.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  61447104
  61507526
  60423
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11195.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  61060441
  61063800
  3360
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11200.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  60538543
  60546398
  7856
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11290.s1
  13.4
  F
  Control (matched sibling)
  NA
  NA
  61569296
  61576244
  6949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11349.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  60994460
  61014216
  19757
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11410.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  60994460
  61005981
  11522
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11450.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  60538543
  60546398
  7856
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11563.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  60378149
  60382601
  4453
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11568.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  60022255
  60025767
  3513
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11653.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  62158583
  62175889
  17307
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11828.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  62732370
  62746339
  13970
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11919.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  61002513
  61014216
  11704
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11920.s1
  18.3
  M
  Control (matched sibling)
  NA
  NA
  60538543
  60547635
  9093
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11962.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  60994460
  61005981
  11522
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11999.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  62158583
  62182433
  23851
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12006.s1
  16.9
  F
  Control (matched sibling)
  NA
  NA
  60538543
  60547635
  9093
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12015.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  60538543
  60547635
  9093
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12032.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  62310306
  62378340
  68035
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12044.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  60538543
  60547635
  9093
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12185.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  60538543
  60547635
  9093
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12235.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  60994460
  61014216
  19757
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12323.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  61447104
  61507526
  60423
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12434.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  60994460
  61014216
  19757
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12451.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  60994460
  61005981
  11522
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12499.s1
  9.4
  M
  Control (matched sibling)
  NA
  NA
  61002513
  61014216
  11704
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12605.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  62166576
  62171557
  4982
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12621.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  60538543
  60547635
  9093
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12653.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  60380472
  60382601
  2130
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12708.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  60994460
  61005981
  11522
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12867.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  60994460
  61014216
  19757
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13035.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  60994460
  61014216
  19757
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13042.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  62165391
  62175889
  10499
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13063.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  61002513
  61014216
  11704
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13226.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  60994460
  61014216
  19757
  GRCh38
  Duplication
  No
  stamouli_18_ASD/NDD_discovery_controls-family30_Twin_2
  N/A
  N/A
  Control
  Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
 
  59865383
  59901807
  36425
  GRCh38
  Deletion
  No
  stamouli_18_ASD/NDD_discovery_controls-family47_Twin_1
  N/A
  N/A
  Control
  Control is from a monozygotic twin pair from the Discordant NDD diagnostic subgroup
 
  62318471
  62336444
  17974
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseSSC08908
 PCR or SNP data validation
 
 Paternal
 
 
 MYT1
 
 brandler_18_ASD_discovery_cases-caseSSC10970
 SNP VCF
 
 De novo
 
 
 MIR646HG
 
 brandler_18_ASD_discovery_cases-caseSSC12538
 PCR or SNP data validation
 
 Paternal
 
 
 KCNQ2
 
 celestino-soper_11_ASD_discovery_cases-11063
 
 
 Unknown
 Simplex
 NA
 LAMA5
 
 celestino-soper_11_ASD_discovery_cases-11189
 
 
 Unknown
 Simplex
 NA
 LAMA5
 
 celestino-soper_11_ASD_discovery_cases-11399
 
 
 Unknown
 Simplex
 NA
 ZNF512B
 
 chaves_19_ASD/DD/ID_discovery_cases-case32
 
 
 Unknown
 
 
 BIRC7,MIR3196,MIR4326,RNU6-994P,NKAIN4,ARFGAP1,CHRNA4,COL20A1,KCNQ2
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_283326
 qPCR
 
 De novo
 
 
 FAM217B,PPP1R3D,MIR646,MTCO2P1,MIR4533,MIR548AG2,MIR1257,MIR3195,PSMA7,HRH3,MIR4758,LAMA5-AS1,RPS21,MIR1-1HG-AS1,MIR1-1,MIR133A2,RPL7P3,SLCO4A1-AS1,LINC00686,LINC00659,OGFR-AS1,OGFR,DPH3P1,ARF4P2,BHLHE23,LINC00029,HAR1B,HAR1A,MIR124-3,BIRC7,MIR3196,MIR4326,RNU6-994P,EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,C20orf181,ABHD16B,RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,C20orf197,SS18L1,MTG2,ADRM1,LAMA5,RBBP8NL,GATA5,MIR1-1HG,NTSR1,MRGBP,COL9A3,TCFL5,GID8,SLC17A9,YTHDF1,NKAIN4,FLJ16779,ARFGAP1,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,PCMTD2,SYCP2,CDH26,MIR646HG,LINC01718,TAF4,LSM14B,OSBPL2,CABLES2,SLCO4A1,LINC01749,LINC01056,COL20A1,KCNQ2,HELZ2,ARFRP1,OPRL1,MYT1,CDH4,DIDO1,ZNF512B
 
 engchuan_15_ASD_discovery_cases-case13032_414
 
 
 Unknown
 
 
 LINC00659,NTSR1
 
 engchuan_15_ASD_discovery_cases-case1968_301
 
 
 Unknown
 
 
 CDH4
 
 engchuan_15_ASD_discovery_cases-case2200_1
 
 
 Unknown
 
 
 MIR4533,MIR646HG
 
 engchuan_15_ASD_discovery_cases-case3109_7
 
 
 Unknown
 
 
 CDH4
 
 engchuan_15_ASD_discovery_cases-case5255_3
 
 
 Unknown
 
 
 CDH4
 
 engchuan_15_ASD_discovery_cases-case9748_202
 
 
 Unknown
 
 
 LINC00029,LINC01749,LINC01056
 
 gai_11_ASD_discovery_cases-AU1641301
 
 
 Inherited
 
 
 CDH4
 
 gai_11_ASD_discovery_cases-AU1909304
 
 
 Inherited
 
 
 CDH4
 
 gai_11_ASD_replication_cases-AU033803
 
 
 Inherited
 
 
 NTSR1 (intronic)
 
 girirajan_12_ASD/DD/ID_discovery_cases-case44153
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 BHLHE23,LINC00029,HAR1B,HAR1A,MIR124-3,BIRC7,MIR3196,MIR4326,RNU6-994P,EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,YTHDF1,NKAIN4,FLJ16779,ARFGAP1,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,LINC01749,LINC01056,COL20A1,KCNQ2,HELZ2,ARFRP1
 
 girirajan_13b_ASD_discovery_cases-3007107649
 
 
 Unknown
 Unknown
 Unknown
 C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,PRPF6,TCEA2,RGS19,PCMTD2,CICP4,LINC00266-1,OPRL1,MYT1
 
 girirajan_13b_ASD_discovery_cases-45905104126
 
 
 Unknown
 Unknown
 Unknown
 UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,PCMTD2,CICP4,LINC00266-1,OPRL1,MYT1,ZNF512B
 
 girirajan_13b_ASD_discovery_cases-9106105625
 
 
 Unknown
 Unknown
 Unknown
 UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,PCMTD2,CICP4,LINC00266-1,OPRL1,MYT1,ZNF512B
 
 girirajan_13b_ASD_discovery_cases-9505103679
 
 
 Unknown
 Unknown
 Unknown
 MIR1257,MIR3195,PSMA7,HRH3,MIR4758,LAMA5-AS1,RPS21,SS18L1,MTG2,ADRM1,LAMA5,RBBP8NL,GATA5,TAF4,LSM14B,OSBPL2,CABLES2,CDH4
 
 girirajan_13b_ASD_discovery_cases-9505103679
 
 
 Unknown
 Unknown
 Unknown
 EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,C20orf181,ABHD16B,RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,PCMTD2,CICP4,LINC00266-1,KCNQ2,HELZ2,ARFRP1,OPRL1,MYT1,ZNF512B
 
 iourov_12_ASD/ID/EP_discovery_cases-case22
 
 
 Unknown
 Unknown
 Unknown
 MIR4758,LAMA5-AS1,RPS21,MIR1-1HG-AS1,MIR1-1,MIR133A2,RPL7P3,SLCO4A1-AS1,LINC00686,LINC00659,OGFR-AS1,OGFR,DPH3P1,ARF4P2,BHLHE23,LINC00029,HAR1B,HAR1A,MIR124-3,BIRC7,MIR3196,MIR4326,RNU6-994P,EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,C20orf181,ABHD16B,RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,ADRM1,LAMA5,RBBP8NL,GATA5,MIR1-1HG,NTSR1,MRGBP,COL9A3,TCFL5,GID8,SLC17A9,YTHDF1,NKAIN4,FLJ16779,ARFGAP1,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,OSBPL2,CABLES2,SLCO4A1,LINC01749,LINC01056,COL20A1,KCNQ2,HELZ2,ARFRP1,DIDO1,ZNF512B
 
 iourov_12_ASD/ID/EP_discovery_cases-case31
 
 
 Unknown
 Unknown
 Unknown
 CDH4
 
 itsara_10_ASD_discovery_cases-HI1892
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 ARF4P2,BHLHE23,LINC00029,HAR1B,HAR1A,TCFL5,GID8,SLC17A9,LINC01749,LINC01056,DIDO1
 
 itsara_10_ASD_discovery_cases-HI2592
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 BIRC7,MIR3196,NKAIN4,FLJ16779
 
 itsara_10_ASD_discovery_cases-HI2991
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 SLC17A9
 
 itsara_10_ASD_discovery_cases-HI4468
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 EEF1A2,SRMS,PPDPF,PTK6,FNDC11,HELZ2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000846
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 PCMTD2,MYT1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000968
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 C20orf181,ABHD16B,RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,ZBTB46,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,OPRL1,ZNF512B
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001084
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 BIRC7,MIR3196,MIR4326,RNU6-994P,EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,C20orf181,ABHD16B,RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,YTHDF1,NKAIN4,FLJ16779,ARFGAP1,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,PCMTD2,COL20A1,KCNQ2,HELZ2,ARFRP1,OPRL1,MYT1,ZNF512B
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001651
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR1-1HG-AS1,MIR1-1,MIR133A2,RPL7P3,SLCO4A1-AS1,LINC00686,LINC00659,OGFR-AS1,OGFR,DPH3P1,ARF4P2,BHLHE23,LINC00029,HAR1B,HAR1A,MIR124-3,BIRC7,MIR3196,MIR4326,RNU6-994P,EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,GATA5,MIR1-1HG,NTSR1,MRGBP,COL9A3,TCFL5,GID8,SLC17A9,YTHDF1,NKAIN4,FLJ16779,ARFGAP1,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,SLCO4A1,LINC01749,LINC01056,COL20A1,KCNQ2,HELZ2,ARFRP1,DIDO1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002289
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 EEF1A2,SRMS,MHENCR,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,KCNQ2,HELZ2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002596
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 PCMTD2,MYT1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004144
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR1-1HG-AS1,MIR1-1,MIR133A2,RPL7P3,SLCO4A1-AS1,LINC00686,LINC00659,OGFR-AS1,OGFR,DPH3P1,ARF4P2,BHLHE23,LINC00029,HAR1B,HAR1A,MIR124-3,BIRC7,MIR3196,MIR4326,RNU6-994P,EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,C20orf181,ABHD16B,RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,MIR1-1HG,NTSR1,MRGBP,COL9A3,TCFL5,GID8,SLC17A9,YTHDF1,NKAIN4,FLJ16779,ARFGAP1,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,SLCO4A1,LINC01749,LINC01056,COL20A1,KCNQ2,HELZ2,ARFRP1,OPRL1,MYT1,DIDO1,ZNF512B
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004470
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MIR133A2,RPL7P3,SLCO4A1-AS1,LINC00686,LINC00659,OGFR-AS1,OGFR,DPH3P1,ARF4P2,BHLHE23,LINC00029,HAR1B,HAR1A,MIR124-3,BIRC7,MIR3196,MIR4326,MIR1-1HG,NTSR1,MRGBP,COL9A3,TCFL5,GID8,SLC17A9,YTHDF1,NKAIN4,FLJ16779,ARFGAP1,SLCO4A1,LINC01749,LINC01056,COL20A1,DIDO1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004664
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HAR1B,HAR1A,MIR124-3,BIRC7,MIR3196,MIR4326,RNU6-994P,EEF1A2,YTHDF1,NKAIN4,FLJ16779,ARFGAP1,CHRNA4,PPDPF,COL20A1,KCNQ2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004875
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PCMTD2,MYT1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005216
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,C20orf181,ABHD16B,RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,PCMTD2,KCNQ2,HELZ2,ARFRP1,OPRL1,MYT1,ZNF512B
 
 kanduri_15_ASD_discovery_cases-case2953
 
 
 Maternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, MIR4533(dist=516277),CDH4(dist=246445)
 
 kanduri_15_ASD_discovery_cases-case2974
 
 
 Maternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, MIR4533(dist=524330),CDH4(dist=246445)
 
 krumm_15_ASD_discovery_cases-case12722.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 NTSR1
 
 krumm_15_ASD_discovery_cases-case13842.p1
 aCGH
 
 De novo
 Simplex
 Likely segregated
 TAF4
 
 krumm_15_ASD_discovery_cases-case13920.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GID8,SLC17A9
 
 larson_17_ASD_discovery_cases-case1
 
 
 Unknown
 
 Unknown
 CDH4
 
 larson_17_ASD_discovery_cases-case2
 
 
 Unknown
 Simplex
 Unknown
 CDH4
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case6
 
 
 Unknown
 
 
 MIR4326,RNU6-994P,EEF1A2,SRMS,ARFGAP1,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,COL20A1,KCNQ2,HELZ2
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
 
 
 Unknown
 
 
 LINC01718,CDH4
 
 marshall_08_ASD_discovery_cases-MM0109-003
 qPCR, qmPCR
 
 De novo
 Simplex
 NA
 ARF4P2,BHLHE23,LINC00029,HAR1B,HAR1A,MIR124-3,BIRC7,MIR3196,MIR4326,RNU6-994P,EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,C20orf181,ABHD16B,RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,TCFL5,GID8,SLC17A9,YTHDF1,NKAIN4,FLJ16779,ARFGAP1,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,PCMTD2,LINC01749,LINC01056,COL20A1,KCNQ2,HELZ2,ARFRP1,OPRL1,MYT1,DIDO1,ZNF512B
 
 moessner_07_ASD_discovery_cases-case1
 
 
 De novo
 Simplex
 NA
 ARF4P2,BHLHE23,LINC00029,HAR1B,HAR1A,MIR124-3,BIRC7,MIR3196,MIR4326,RNU6-994P,EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,C20orf181,ABHD16B,RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,TCFL5,GID8,SLC17A9,YTHDF1,NKAIN4,FLJ16779,ARFGAP1,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,PCMTD2,LINC01749,LINC01056,COL20A1,KCNQ2,HELZ2,ARFRP1,OPRL1,MYT1,DIDO1,ZNF512B
 
 morrow_08_ASD_discovery_cases-case1802
 
 
 Paternal
 NA
 NA
 0 genes
 
 oikonomakis_16_ASD_discovery_cases-case145
 
 
 Unknown
 
 
 RNU6-994P,EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,C20orf181,ABHD16B,RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,PCMTD2,CICP4,LINC00266-1,COL20A1,KCNQ2,HELZ2,ARFRP1,OPRL1,MYT1,ZNF512B
 
 pinto_10_ASD_discovery_cases-case5255_3
 Agilent1M
 
 maternal
 NA
 NA
 CDH4
 
 poultney_13_ASD_discovery_cases-case00HI1721A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 PCMTD2
 
 poultney_13_ASD_discovery_cases-case01HI1892A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 DPH3P1,ARF4P2,TCFL5,GID8,SLC17A9,DIDO1
 
 poultney_13_ASD_discovery_cases-case98HI0391A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RNU6-994P,CHRNA4,COL20A1
 
 prasad_12_ASD_discovery_cases-case123295
 
 
 Unknown
 Unknown
 Unknown
 CDH4
 
 prasad_12_ASD_discovery_cases-case157926
 
 
 Unknown
 Unknown
 Unknown
 CDH4
 
 prasad_12_ASD_discovery_cases-case46486
 
 
 Unknown
 Unknown
 Unknown
 MIR4326,C20orf201,STMN3,PTK6,BIRC7,EEF1A2,C20orf11,YTHDF1,C20orf195,ARFGAP1,MIR941-3,MIR941-2,MIR941-1,FLJ16779,OPRL1,PRPF6,SOX18,MIR647,SAMD10,ZGPAT,HAR1B,HAR1A,NCRNA00029,BHLHE23,SRMS,UCKL1-AS1,NKAIN4,TNFRSF6B,DIDO1,MYT1,PCMTD2,ABHD16B,TCFL5,TCEA2,MIR124-3,KCNQ2,NCRNA00176,CHRNA4,TPD52L2,GMEB2,MIR3196,RTEL1,LOC100144597,LIME1,RTEL1-TNFRSF6B,PRIC285,SLC17A9,MIR1914,UCKL1,DNAJC5,ARFRP1,RGS19,SLC2A4RG,LOC63930,NPBWR2,ZBTB46,PPDPF,COL20A1,ZNF512B
 
 prasad_12_ASD_discovery_cases-case71118
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case94078
 
 
 Unknown
 Unknown
 Unknown
 CDH4
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1616-0
 qPCR
 
 Paternal
 Unknown
 Unknown
 MIR124-3,BIRC7,MIR3196,MIR4326,RNU6-994P,EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,C20orf181,ABHD16B,RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,YTHDF1,NKAIN4,FLJ16779,ARFGAP1,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,PCMTD2,CICP4,LINC00266-1,COL20A1,KCNQ2,HELZ2,ARFRP1,OPRL1,MYT1,ZNF512B
 
 sanders_11_ASD_discovery_cases-11025.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CDH4
 
 sanders_11_ASD_discovery_cases-11045.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11096.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11144.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11179.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MIR4758,LAMA5-AS1,LAMA5
 
 sanders_11_ASD_discovery_cases-11189.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CDH4
 
 sanders_11_ASD_discovery_cases-11227.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11290.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CDH4
 
 sanders_11_ASD_discovery_cases-11410.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11413.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11415.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11425.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZBTB46,ZBTB46-AS1
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MIR4758,LAMA5-AS1,ADRM1,LAMA5
 
 sanders_11_ASD_discovery_cases-11498.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11563.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MIR646HG
 
 sanders_11_ASD_discovery_cases-11806.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11811.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11859.p1
 
 
 Unknown
 Simplex (trio)
 NA
 SS18L1
 
 sanders_11_ASD_discovery_cases-11938.p1
 
 
 Unknown
 Simplex (trio)
 NA
 TPD52L2
 
 sanders_11_ASD_discovery_cases-12006.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12009.p1
 
 
 Paternal
 Simplex (trio)
 NA
 MYT1
 
 sanders_11_ASD_discovery_cases-12052.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SS18L1
 
 sanders_11_ASD_discovery_cases-12072.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12083.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SS18L1
 
 sanders_11_ASD_discovery_cases-12117.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 LAMA5
 
 sanders_11_ASD_discovery_cases-12170.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12180.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12303.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12312.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12325.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12325.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12360.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12722.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC00686,LINC00659,NTSR1
 
 sanders_11_ASD_discovery_cases-12736.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SS18L1
 
 sanders_11_ASD_discovery_cases-12743.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SS18L1,MTG2
 
 sanders_11_ASD_discovery_cases-13067.p1
 
 
 Unknown
 Simplex (trio)
 NA
 CDH4
 
 sansovic_17_DD/ID/ASD_discovery_cases-case47
 
 
 Unknown
 
 
 HAR1B,HAR1A,MIR124-3,BIRC7,MIR3196,MIR4326,RNU6-994P,EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,C20orf181,ABHD16B,RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,YTHDF1,NKAIN4,FLJ16779,ARFGAP1,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,PCMTD2,LINC01749,COL20A1,KCNQ2,HELZ2,ARFRP1,OPRL1,MYT1,ZNF512B
 
 schaefer_10_ASD_discovery_cases-case8
 FISH
 
 Unknown
 Unknown
 Unknown
 NA
 
 stamouli_18_ASD/NDD_discovery_cases-family39_Twin_2
 
 
 Unknown
 Multiplex
 Not segregated (CNV not present in affected twin)
 LAMA5
 
 tzetis_12_DD/ID_discovery_cases-case50
 
 
 Unknown
 Unknown
 
 RNU6-994P,EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,C20orf181,ABHD16B,RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,PCMTD2,CICP4,LINC00266-1,COL20A1,KCNQ2,HELZ2,ARFRP1,OPRL1,MYT1,ZNF512B
 
 verberne_22_ASD/DD/ID_discovery_cases-case571
 
 
 Unknown
 
 
 CHRNA4,EEF1A2,KCNQ2,KCNQ2-AS1
 
 yap_21_ASD_discovery_cases-case4406296
 
 
 Maternal
 Multiplex
 
 CHRNA4,EEF1A2,STMN3,RTEL1,YTHDF1,ARFGAP1,COL20A1,PPDPF,BIRC7,FNDC11,HELZ2,NKAIN4,KCNQ2,MIR4326,MIR3196,MHENCR,RTEL1-TNFRSF6B,PTK6,KCNQ2-AS1,SRMS,RNU6-994P,GMEB2
 
 yap_21_ASD_discovery_cases-case4406297
 
 
 Maternal
 Multiplex
 
 CHRNA4,EEF1A2,YTHDF1,ARFGAP1,COL20A1,PPDPF,BIRC7,FNDC11,HELZ2,NKAIN4,MIR124-3,KCNQ2,MIR4326,MIR3196,MHENCR,PTK6,KCNQ2-AS1,SRMS,RNU6-994P,GMEB2
 
 yin_16_ASD_discovery_cases-case591
 
 
 Unknown
 Unknown
 Unknown
 RNU7-141P,FAM217B,PPP1R3D,SYCP2
 
 yuen_17_ASD_discovery_cases-case2-0109-003
 Affymetrix 6.0
 
 De novo
 Simplex
 Segregated
 ARF4P2,BHLHE23,LINC00029,HAR1B,HAR1A,MIR124-3,BIRC7,MIR3196,MIR4326,RNU6-994P,EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,TCFL5,GID8,SLC17A9,YTHDF1,NKAIN4,FLJ16779,ARFGAP1,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,LINC01749,LINC01056,COL20A1,KCNQ2,HELZ2,ARFRP1,DIDO1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlREACH000548
  PCR or SNP data validation
 
  Paternal
 
 
  LAMA5-AS1,LAMA5
 
brandler_18_ASD_discovery_controls-controlREACH000551
  PCR or SNP data validation
 
  Paternal
 
 
  LAMA5-AS1,LAMA5
 
brandler_18_ASD_discovery_controls-controlSSC08921
  PCR or SNP data validation
 
  Paternal
 
 
  MYT1
 
engchuan_15_ASD_discovery_controls-control110036016178_
 
 
  Unknown
 
 
  PCMTD2,CICP4,LINC00266-1,MYT1
 
engchuan_15_ASD_discovery_controls-controlB225400_1007852906
 
 
  Unknown
 
 
  LINC00029,LINC01749,LINC01056
 
engchuan_15_ASD_discovery_controls-controlB904265_1007873471
 
 
  Unknown
 
 
  CDH4
 
engchuan_15_ASD_discovery_controls-controlB904265_1007873471
 
 
  Unknown
 
 
  CDH4
 
engchuan_15_ASD_discovery_controls-controlHABC_900106_900106
 
 
  Unknown
 
 
  LINC00659,NTSR1
 
engchuan_15_ASD_discovery_controls-controlHABC_900391_900391
 
 
  Unknown
 
 
  BIRC7,MIR3196,MIR4326,NKAIN4,FLJ16779,ARFGAP1,COL20A1
 
engchuan_15_ASD_discovery_controls-controlHABC_900770_900770
 
 
  Unknown
 
 
  PCMTD2,CICP4,LINC00266-1,MYT1
 
engchuan_15_ASD_discovery_controls-controlHABC_900979_900979
 
 
  Unknown
 
 
  CDH4
 
girirajan_13b_ASD_discovery_controls-10809111031
 
 
  Unknown
 
 
  EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,KCNQ2,HELZ2,ARFRP1
 
girirajan_13b_ASD_discovery_controls-20308109922
 
 
  Unknown
 
 
  EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,KCNQ2,HELZ2,ARFRP1
 
girirajan_13b_ASD_discovery_controls-3008108929
 
 
  Unknown
 
 
  C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,PRPF6,TCEA2,RGS19,PCMTD2,CICP4,LINC00266-1,OPRL1,MYT1
 
girirajan_13b_ASD_discovery_controls-6106105636
 
 
  Unknown
 
 
  C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,PRPF6,TCEA2,RGS19,PCMTD2,CICP4,LINC00266-1,OPRL1,MYT1
 
kanduri_15_ASD_discovery_controls-control_split1399
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MIR4533(dist=60362),CDH4(dist=704789)
 
kanduri_15_ASD_discovery_controls-control_split163
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MIR4533(dist=524330),CDH4(dist=238210)
 
kanduri_15_ASD_discovery_controls-control_split1800
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MIR4533(dist=516277),CDH4(dist=238210)
 
kanduri_15_ASD_discovery_controls-control_split1931
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MIR4533(dist=60362),CDH4(dist=704789)
 
kanduri_15_ASD_discovery_controls-control_split1977
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MIR4533(dist=60362),CDH4(dist=704789)
 
krumm_13_ASD_discovery_controls-control11196.s1
  aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  PCMTD2,MYT1
 
krumm_15_ASD_discovery_controls-control13621.s1
  1M-Duov3
 
  Maternal
 
 
  PPDPF,PTK6
 
krumm_15_ASD_discovery_controls-control13920.s1
  Omni2.5-4v1
 
  Maternal
 
 
  BHLHE23,GID8,SLC17A9
 
krumm_15_ASD_discovery_controls-control13962.s1
  Omni2.5-4v1
 
  Paternal
 
 
  COL20A1
 
krumm_15_ASD_discovery_controls-control14285.s1
  Omni2.5-4v1
 
  Maternal
 
 
  PCMTD2
 
nord_11_ASD_discovery_controls-04C27212
 
 
 
 
 
  C20orf166,C20orf200
 
poultney_13_ASD_discovery_controls-control05C46117
 
 
  Unknown
 
 
  RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,PCMTD2,OPRL1,MYT1,ZNF512B
 
sanders_11_ASD_discovery_controls-11017.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11028.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11030.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11067.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11096.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11121.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11189.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CDH4
 
sanders_11_ASD_discovery_controls-11195.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11200.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11290.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CDH4
 
sanders_11_ASD_discovery_controls-11349.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11410.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11450.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11563.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR646HG
 
sanders_11_ASD_discovery_controls-11568.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CDH26
 
sanders_11_ASD_discovery_controls-11653.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SS18L1
 
sanders_11_ASD_discovery_controls-11828.s1
 
 
  Unknown
  Simplex (quad)
  NA
  NTSR1
 
sanders_11_ASD_discovery_controls-11919.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11920.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11962.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11999.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SS18L1
 
sanders_11_ASD_discovery_controls-12006.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12015.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12032.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MIR4758,LAMA5-AS1,LAMA5
 
sanders_11_ASD_discovery_controls-12044.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12185.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12235.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12323.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CDH4
 
sanders_11_ASD_discovery_controls-12434.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12451.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12499.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12605.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SS18L1
 
sanders_11_ASD_discovery_controls-12621.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12653.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR646HG
 
sanders_11_ASD_discovery_controls-12708.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12867.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13035.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13042.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SS18L1
 
sanders_11_ASD_discovery_controls-13063.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13226.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
stamouli_18_ASD/NDD_discovery_controls-family30_Twin_2
 
 
  Unknown
  Simplex
 
  SYCP2
 
stamouli_18_ASD/NDD_discovery_controls-family47_Twin_1
 
 
  Unknown
  Simplex
 
  MIR4758,LAMA5
 

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