HELP     Sign In

19p13.2CNV Type: Deletion-Duplication


Largest CNV size: 459191 bp

Statistics Box:
Number of Reports: 29



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
NA
Deletion-Duplication
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion-Duplication
Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
New insights into replication clamp unloading.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-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
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
Behavioral characteristics associated with 19p13.2 microdeletions.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
NA
Deletion
NA
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication
NA
Deletion
NA
Duplication
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bassuk_13_ID/EP_discovery_cases
 Affected individuals in a family (two siblings and their mother) with intellectual disability and epilepsy
 3
 Intellectual disability (ID) and epilepsy (EP)
 N/A
 33.3% Male
 900000
 3
 0
 3
 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
 286450
 2
 1
 3
 ceylan_18_DD/ID_discovery_cases
  NA NA
 Patients examined at the department of genetics between May 2016 and April 2017
 124
 Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
 Range, 15 days-17 years
 58.87% Male
 2200000
 1
 0
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 985480
 1
 2
 3
 egger_14_ASD_discovery_cases
 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
 73
 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
 N/A
 80.82% Male
 31127
 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
 60992
 7
 1
 8
 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
 809999
 1
 1
 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
 652390
 0
 3
 3
 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
 60736
 1
 0
 1
 klaassens_14_DD/ASD_discovery_cases
 Patients presenting with a Sotos-like phenotype and deletions involving the NFIX gene
 4
 All four cases present with Malan syndrome/Sotos syndrome 2 and moderate-to-severe severe developmental delay. One case diagnosed with ASD (diagnostic tools N/A).
 Range, 2.7-10 yrs.
 50% Male
 740000
 4
 0
 4
 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
 9242
 0
 4
 4
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 678651
 N/A
 N/A
 20
 kushima_18_ASD_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 1108
 Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
 Median age, 19 years
 78.0% Male
 2038027
 0
 1
 1
 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
 61990
 2
 0
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 52263
 1
 4
 5
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 175000
 0
 2
 2
 monteiro_19_ASD_discovery_cases
  NA NA
 Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
 253
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
 N/A
 76.68% Male
 199000
 0
 1
 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
 
 
 45860
 0
 4
 4
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 32182
 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)
 969033
 3
 9
 12
 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
 15711
 4
 0
 4
 roberts_13_ASD/DD/ID_discovery_cases
 Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
 215
 ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
 Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
 65.12% Male
 818000
 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
 60736
 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
 459191
 9
 12
 21
 trimouille_17_ID_discovery_cases
 Patients with 19p13 microduplications encompassing the NFIX gene
 9
 8/9 cases with intellectual disability; two of these cases also presented with autism spectrum disorder
 Range, 10 mos.-16 yrs.
 55.56% Male
 2341526
 0
 5
 5
 welham_15_ASD_discovery_cases
 Ten participants recruited through UNIQUE that were confirmed to have a 19p13.2 microdeletion
 10
 Diagnosis of ASD/autism based on meeting cut-off on Social Communication Questionnaire (SCQ); behavioral evaluation of cases made using the Challenging Behavior Questionnaire (CBQ), the Activity Questionnaire (TAQ), the Mood Interest and Pleasure Questionnaire Short-Form (MIPQ-S), the Repetitive Behavior Questionnaire (RBQ), and a modified version of the Sleep Questionnaire (ISQm); self-help subscale of Wessex scale used as an approximate indicator of intellectual disability.
 Range, 2-20 yrs.
 40% Male
 3420000
 8
 0
 8
 xiang_21_ASD/DD/ID_discovery_cases
 Children with unexplained developmental delay/intellectual disability referred to the Affiliated Suzhou Hospital of Nanjing Medical University (Suzhou, China) from January 2018 to March 2021.
 17
 All cases presented with developmental delay/intellectual disability (DD/ID), while a subset of cases also presented with autism spectrum disorder (ASD).
 Range, 2-9 yrs. (mean, 5.6 yrs.)
 88.235% Male
 183264
 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
 1854979
 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
 100146
 0
 2
 2

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
 1073
 1
 0
 1
 egger_14_ASD_discovery_controls
 CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
 2357
 Control
 N/A
 N/A
 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
 146199
 11
 3
 14
 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
 0
 0
 0
 0
 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
 12002
 0
 4
 4
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 66035
 8
 5
 13
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 0
 0
 0
 0
 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
 61990
 1
 0
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 52263
 0
 1
 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)
 447789
 4
 1
 5
 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)
 15711
 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.
 
 66448
 6
 5
 11
 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
 100146
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 bassuk_13_ID/EP_discovery_cases
  N/A
 aCGH
  Agilent SurePrint G3 1M array
 
 Genome Workbench
 None
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 ceylan_18_DD/ID_discovery_cases
  Turkish
 Array SNP
  Affymetrix CytoScan Optima
 
 ChAS v.3.1
 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
 egger_14_ASD_discovery_cases
  68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
 Array SNP
  Affymetrix 6.0
 Birdsuite, iPattern, Affymetrix Genotyping Console
 
 Microarray
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 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
 klaassens_14_DD/ASD_discovery_cases
  1 British, 1 Chinese, 1 Italian, 1 British/Afro-Caribbean
 aCGH
  NimbleGen 135K
 
 GenePix Pro 7, DEVA v1.01, Infoquant Fusion v6.0
 qPCR
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 kushima_18_ASD_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 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
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 monteiro_19_ASD_discovery_cases
  Portuguese
 aCGH
  Agilent SurePrint G3 4x180K
 
 Agilent Cytogenomics
 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)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 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
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or 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
 
 
 trimouille_17_ID_discovery_cases
  France (n=6), UK (n=1), Italy (n=1), New Zealand (n=1)
 aCGH, array SNP
  60K array, 44K array
 
 
 qPCR, FISH
 welham_15_ASD_discovery_cases
  5 from United Kingdom, 3 from United States, 1 from Australia, 1 from Canada
 N/A
  N/A
 N/A
 N/A
 N/A
 xiang_21_ASD/DD/ID_discovery_cases
  China
 WES
  Illumina NovaSeq 6000
 NA
 XHMM, PCA, CNVKit
 qPCR
 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

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
 
  None
  egger_14_ASD_discovery_controls
  European
  N/A
  N/A
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13a_ASD_discovery_controls1
  NA
  aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
  ADM-2
  Agilent Genomic Workbench
  None
  girirajan_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  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
 
 
  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
  bassuk_13_ID/EP_discovery_cases-case1
 N/A
 M
 Intellectual disability and epilepsy
 Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: affected sister (bassuk_13_ID/EP_discovery_cases-case2) and mother (bassuk_13_ID/EP_discovery_cases-case3) also carry 19p13.2 deletion; reportedly unaffected father (deceased) and maternal grandparents.
 Intellectual disability; Stanford-Binet IQ: 60
 11589185
 12489186
  900002
 GRCh38
 Deletion
 No
  bassuk_13_ID/EP_discovery_cases-case2
 N/A
 F
 Intellectual disability and epilepsy
 Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: affected brother (bassuk_13_ID/EP_discovery_cases-case1) and mother (bassuk_13_ID/EP_discovery_cases-case3) also carry 19p13.2 deletion; reportedly unaffected father (deceased) and maternal grandparents.
 Intellectual disability; Stanford-Binet IQ: 64
 11589185
 12489186
  900002
 GRCh38
 Deletion
 No
  bassuk_13_ID/EP_discovery_cases-case3
 N/A
 F
 Intellectual disability and epilepsy
 Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: two affected children (bassuk_13_ID/EP_discovery_cases-case1 and bassuk_13_ID/EP_discovery_cases-case2), both of whom inherited 19p13.2 deletion; reportedly unaffected parents (mother negative for 19p13.2 deletion, father N/A).
 Intellectual disability; Stanford-Binet IQ: 80
 11589185
 12489186
  900002
 GRCh38
 Deletion
 No
  brandler_18_ASD_discovery_cases-caseREACH000467
 N/A
 M
 ASD
 Case from REACH cohort
 
 11172925
 11459235
  286311
 GRCh38
 Duplication
 No (false positive)
  brandler_18_ASD_discovery_cases-caseSJD_55.3
 N/A
 M
 ASD
 Case from REACH cohort
 
 10439445
 10446857
  7413
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_discovery_cases-caseSJD_68.3
 N/A
 F
 ASD
 Case from REACH cohort
 
 10690569
 10690983
  415
 GRCh38
 Deletion
 Yes
  ceylan_18_DD/ID_discovery_cases-case19
  NA NA
 9 mos.
 N/A
 Developmental delay
 Developmental milestones: developmental delay. Dysmorphic features: deep set eyes, micrognatia. Other findings: hypotonia.
 
 11173862
 13444846
  2270985
 GRCh38
 Deletion
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299787
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 12322966
 13308445
  985480
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299888
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 9568092
 9692729
  124638
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300041
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 13216825
 13365414
  148590
 GRCh38
 Duplication
 No
  egger_14_ASD_discovery_cases-caseA161
 25 yrs. (born 1989)
 M
 ASD
 Diagnosis: Asperger syndrome. Co-morbidities/additional features: none reported. Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
 Normal IQ
 11919443
 11950569
  31127
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case14020_400
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6957866
 7018858
  60993
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14141_2390
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12398722
 12429289
  30568
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14379_4920
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12389335
 12429289
  39955
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14391_5000
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12389335
 12429289
  39955
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18182_303
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6957866
 7018858
  60993
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4177_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6957866
 7018858
  60993
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8451_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7063361
 7105125
  41765
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8719_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6957866
 7018858
  60993
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-12426.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
 7999117
 8808324
  809208
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-14075.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
 10465424
 10475749
  10326
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001176
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 7194917
 7827432
  632516
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004309
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 11138895
 11549951
  411057
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004614
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 11807758
 11868554
  60797
 GRCh38
 Duplication
 Yes
  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.
 
 6958134
 7018869
  60736
 Unknown
 Deletion
 No
  klaassens_14_DD/ASD_discovery_cases-case1
 10 yrs.
 M
 Malan syndrome, developmental delay, and ASD
 Case diagnosed with ASD (diagnostic tools N/A). Birth/neonatal history: pregnancy complicated by vaginal bleeding at 9 weeks and premature contractions at 28 weeks gestation; birth weight of 2490 g at 37 weeks gestation (-1.3 SD). Developmental milestones: delayed motor milestones (sat unsupported at 1 years, crawled at 18 months, walked at around 2.5-3 years). Language and communication evaluation: spoke several words, but no sentences, at age of 3 years. Motor and musculoskeletal evaluation: mild scoliois of the thoracic spine, mild pectus excavatum, bone age was 3.5 yrs at chronological age of 3 years (1 SD above mean). Behavioral/psychiatric evaluation: behavioral difficulties. Epilepsy/seizures: positive. Dysmorphic features: plagiocephaly, prominent forehead, facial asymmetry, low posterior hairline. Growth parameters: height 152.0 cm (+2.2 SD), weight 45.5 kg (+1.7 SD), OFC 55.5 cm (+0.7 SD). Family history: first child of healthy unrelated British parents.
 Moderate developmental delay
 12986968
 13098690
  111723
 GRCh38
 Deletion
 Yes
  klaassens_14_DD/ASD_discovery_cases-case2
 3.5 yrs.
 F
 Malan syndrome and developmental delay
 Birth/neonatal history: born by forceps delivery at 42 weeks gestation; birth weight N/A. Developmental milestones: sat unsupported at 12 months, first independent steps at 2.5 years. Language and communication evaluation: said 'dada', but no other clear words, at age of 3.5 years. Motor and musculoskeletal evaluation: pectus excavatum. Visual evaluation: nystagmus, strabismus. Dysmorphic features: scaphocephaly, prominent forehead, depressed nasal bridge, deep-set eyes, high arched palate, significant drooling. Growth parameters: height 94.5 cm (+1.0 SD), weight 14.1 kg (+0.7 SD), OFC 51.1 cm (+1.0 SD). Family history: only child of healthy unrelated Chinese parents.
 Moderate developmental delay
 12613662
 13400245
  786584
 GRCh38
 Deletion
 Yes
  klaassens_14_DD/ASD_discovery_cases-case3
 2.7 yrs.
 F
 Malan syndrome and developmental delay
 Birth/neonatal history: born at term after uneventful pregnancy; birth weight 3.6 kg (+0.5 SD). Developmental milestones: first walked at 2.5 years. Motor and musculoskeletal evaluation: pectus excavatum. Epilepsy/seizures: one febrile seizure. Visual evaluation: oculomotor dyspraxia, intermittent end-gaze horizontal strabismus, intermittent covergent squint. Dysmorphic features: prominent forehead, slightly downslanting palpebral fissures. Growth parameters: height 93.4 cm (+0.5 SD), weight 15.4 kg (+1.3 SD), OFC 52 cm (+1.6 SD). Family history: born to healthy unrelated Italian parents.
 Moderate developmental delay
 12986968
 13400245
  413278
 GRCh38
 Deletion
 Yes
  klaassens_14_DD/ASD_discovery_cases-case4
 5.5 yrs.
 M
 Malan syndrome and developmental delay
 Birth/neonatal history: born at 39 weeks gestation; birth weight 4.1 kg (+1.1 SD); hypertonic at birth with flexed posture and adducted thumbs; mild contractures of joiints that resolved spontaneously in first year. Developmental milestones: global developmental delay; standing at 2.5 years, walking at 4.5 years. Language and communication evaluation: babbling but no words at 5.5 years. Brain imaging: brain MRI at ageof 8 weeks showed delayed myelination. Visual evaluation: strabismus; left divergent squint, visual evoked potential examination showing post-retinal dysfunction bilaterally. Dysmorphic features: scaphocephaly, prominent forehead. Growth parameters: height 128 cm (+2.8 SD), weight 30.5 kg (+3.9 SD), OFC 59 cm (+2.9 SD).
 Severe developmental delay
 12701780
 13266183
  564404
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case11479.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11479. SRS score of 79.
 Full-scale IQ (FSIQ) score of 133.
 11430898
 11438124
  7227
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12616.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12616. SRS score of 63.
 Full-scale IQ (FSIQ) score of 111.
 8094445
 8103687
  9243
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12626.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12626. SRS score of 87.
 Full-scale IQ (FSIQ) score of 92.
 7075074
 7083744
  8671
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13504.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13504. SRS score of 77.
 Full-scale IQ (FSIQ) score of 64.
 7081359
 7083744
  2386
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11028.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 10701949
 10713270
  11322
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11028.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 10830126
 10848539
  18414
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11479.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 11430898
 11438124
  7227
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11679.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 7669326
 7697589
  28264
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12368.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 11402649
 11406864
  4216
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12426.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 7898660
 8577312
  678653
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12532.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 6974299
 6991132
  16834
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12572.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 12943532
 12943915
  384
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12616.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 8094445
 8103687
  9243
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12941.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 6974299
 6989162
  14864
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13015.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type:
 
 9757474
 9759942
  2469
 GRCh38
 N/A
 Yes
  krumm_15_ASD_discovery_cases-case13043.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 7745517
 7766207
  20691
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13139.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6985989
 6991132
  5144
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13234.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 10018730
 10021749
  3020
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13585.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6974299
 6989162
  14864
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13620.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 10252253
 10271226
  18974
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13661.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 6974599
 6990834
  16236
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13911.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 11457109
 11514221
  57113
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14186.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 7075074
 7117410
  42337
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14495.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6974299
 6989162
  14864
 GRCh38
 Deletion
 Yes
  kushima_18_ASD_discovery_cases-caseASD0862
 26 yrs.
 M
 ASD, MDD
 Behavioral/psychiatric evaluation: mood disorders, MDD, irritability. Family history: positive for MDD.
 IQ > 70
 7981357
 10019383
  2038027
 GRCh38
 Duplication
 N/A
  larson_17_ASD_discovery_cases-case109
  NA NA
 N/A
 N/A
 ASD and psychosis
 No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
 
 6951983
 7013973
  61991
 GRCh38
 Deletion
 No
  larson_17_ASD_discovery_cases-case110
  NA NA
 N/A
 N/A
 ASD and psychosis
 No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
 
 6951983
 7013973
  61991
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11028.p1
 NA
 M
 ASD
 NA
 NA
 10694986
 10732744
  37759
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11245.p1
 NA
 M
 ASD
 NA
 NA
 8273484
 8306010
  32527
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11376.p1
 NA
 M
 ASD
 NA
 NA
 8864864
 8896188
  31325
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11679.p1
 NA
 M
 ASD
 NA
 NA
 7668541
 7720803
  52263
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11721.p1
 NA
 M
 ASD
 NA
 NA
 7065685
 7106627
  40943
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown79
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 6908659
 7083770
  175112
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown80
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 7699386
 7784471
  85086
 GRCh38
 Duplication
 No
  monteiro_19_ASD_discovery_cases_case31
  NA NA
 N/A
 M
 ASD and developmental delay
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: developmental delay. Dysmorphic features: none reported.
 
 12504791
 12703302
  198512
 GRCh38
 Duplication
 No
  pinto_14_ASD_discovery_cases2-case14391_5000
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 12389335
 12421516
  32182
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case03HI2497B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0907302; NDAR ID NDAR_INVED777VE9)
 
 6986289
 6990798
  4510
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case04HI2957A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
 
 9381146
 9653883
  272738
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI2957A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
 
 11614525
 12583558
  969034
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI3174A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
 
 12463994
 12583558
  119565
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI3174A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
 
 9378960
 9617080
  238121
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case98HI0027A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU028503; NDAR ID NDAR_INVXL501PFH)
 
 11614525
 12583558
  969034
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case98HI0582A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU045903; NDAR ID NDAR_INVJU319BGV)
 
 12763280
 12766016
  2737
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case99HI0922A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
 
 12463994
 12583558
  119565
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0922A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
 
 9378960
 9653883
  274924
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0933A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
 
 9381146
 9763410
  382265
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0933A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
 
 11614525
 12583558
  969034
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI1079A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU052104; NDAR ID NDAR_INVWX701WVK)
 
 6986289
 6990798
  4510
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case128122
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 12026695
 12036494
  9800
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case60416
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 12026695
 12042405
  15711
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case68785
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 12026695
 12036494
  9800
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case76821-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 7853837
 7862427
  8591
 Unknown
 Deletion
 No
  roberts_13_ASD/DD/ID_discovery_cases-ASDcase12
 4 yrs.
 F
 ASD
 No reported clinical features
 
 10896111
 11713863
  817753
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1304-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: yes.
 Developmental delay: yes. Intellectual disability: unknown.
 6958123
 7018858
  60736
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11028.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 106
 10826138
 10845249
  19112
 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
 12398722
 12429289
  30568
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11129.p1
 4.7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
 8150086
 8160401
  10316
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11376.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
 8865795
 8891310
  25516
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11437.p1
 16.6
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
 11819824
 11886830
  67007
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11679.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
 7699031
 7720827
  21797
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11681.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 84; verbal IQ, 85
 12398722
 12429289
  30568
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11765.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
 9171694
 9178363
  6670
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11860.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
 10766165
 10770339
  4175
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12189.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
 12398722
 12429289
  30568
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12266.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
 8302030
 8322114
  20085
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12375.p1
 15.9
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 93; verbal IQ, 85
 7007096
 7010799
  3704
 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
 8302825
 8322114
  19290
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12426.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
 7896891
 7928091
  31201
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12426.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
 8063707
 8522898
  459192
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12444.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
 7007096
 7010799
  3704
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12532.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 135
 6957866
 7018858
  60993
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12616.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 113; verbal IQ, 104
 8094478
 8102946
  8469
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12638.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
 8302030
 8324636
  22607
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12690.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 112; verbal IQ, 103
 12386120
 12429289
  43170
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12941.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 96
 6974935
 7013874
  38940
 GRCh38
 Duplication
 No
  trimouille_17_ID_discovery_cases-case4
 5 yrs.
 F
 Intellectual disability
 Case present in DECIPHER database (DECIPHER ID 284902). Birth/neonatal history: uneventful pregnancy and delivery. Developmental milestones: mild developmental delay; first words at age of 18 months, started combining them at 3 years; walking at 17 months of age. Motor and musculoskeletal evaluation: brachydactyly of hands and feet; bilateral metacarpophalangeal ankylosis of the first, second, and third fingers; irregularities of proximal metaphyses of F2 and F5; motor restlessness. Behavioral/psychiatric evaluation: stereotypies; hand flapping; sleep disorder; poor concentration; onychotillomania. Dysmorphic features: full cheeks, everted and thick lower lip. Growth parameters: height 0 SD, weight +2 SD, head circumference 0 SD. Family history: second child of a 2-sibling family; no familial medical history.
 Intellectual disability
 12633717
 13427228
  793512
 GRCh38
 Duplication
 Yes
  trimouille_17_ID_discovery_cases-case5
 10 yrs.
 F
 Intellectual disability
 Case present in DECIPHER database (DECIPHER ID 258888). Birth/neonatal history: mother followed for gestational diabetes, obesity, and hypothyroidism treated by L-thyroxin during pregnancy; born at 37 weeks gestation by C-section; birth weight 2800 g (50th %ile), length 48 cm (60th %ile). Developmental milestones: developmental delay, especially regarding language skills. Motor and musculoskeletal evaluation: brachydactyly; hypotonia; kyphosis; bone age delay (one-year delay of bone maturation found by X-rays at 6 years of age); valgus deformation of knees. Additonal medical history: astigmatism; hyperopia; exotropia; tendency to constipation with encopresis. Dysmorphic features: full cheeks, arched eyebrows, everted and thick lower lip; coarse face; unilateral single palmar crease. Growth parameters: slowing of growth velocity between 6 months and 2 years of age; height -2.5 SD, weight 0 SD, head circumference -2 SD. Family history: first child born to a non-consanguineous couple.
 Intellectual disability
 12886826
 13500192
  613367
 GRCh38
 Duplication
 Yes
  trimouille_17_ID_discovery_cases-case6
 10 mos.
 F
 MCA
 Case present in DECIPHER database (DECIPHER ID 301615). Birth/neonatal history: ultrasound reported short femurs at 7th %ile; hydramnios for which Bartter syndrome was suspected, but infirmed after amniotic fluid and postnatal blood biochemical analyses; born at 36 weeks gestation; birth weight 2610 g (54th %ile), length 43 cm (5th %ile), head circumference 32 cm (32nd %ile); stridor during neonatal period. Motor and musculoskeletal evaluation: brachydactyly; bone age delay (bone maturation delay of 5 months at age of 6 months); talus valgus; bialteral 2/3 toe syndactyly; acromicria with low set thumbs and 5th fingers. Additional medical history: atrial septal defect; diffues eczema; 3 week episode of hematuria of unknown etiology. Growth parameters: failure to thrive; height -3 SD, weight -2 SD, head circumference -3 SD.
 
 12886826
 13365414
  478589
 GRCh38
 Duplication
 No
  trimouille_17_ID_discovery_cases-case7
 10 yrs.
 M
 Intellectual disability
 Case present in DECIPHER database (DECIPHER ID 269163). Birth/neonatal history: born at full term by vaginal delivery; birth weight 2800 g (8th %ile), length 47 cm (6th %ile); hospitalized for respiratory distress during neonatal period. Developmental milestones: delayed development. Motor and musculoskeletal evaluation: bone age delay (delayed bone age of 4 years at age of 10 years). Additional medical history: eczema, asthma, atopic dermatitis; lagophthalmos with superficial punctate keratopathy. Dysmorphic features: full cheeks, arched eyebrows, everted and thick lower lip. Growth parameters: height -2 SD, weight 0 SD, head circumference < -2 SD.
 Intellectual disability (total IQ of 60)
 10990377
 13324317
  2333941
 GRCh38
 Duplication
 Yes
  trimouille_17_ID_discovery_cases-case9
 2.5 yrs.
 M
 Intellectual disability
 Case present in DECIPHER database (DECIPHER ID 338712). Birth/neonatal history: uneventful pregnancy and delivery; born at full term; birth weight 2815 g (8.5th %ile), length 46 cm (2nd %ile), head circumference 32.5 cm (5.5th %ile); failure to thrive reported at 22 months of age. Developmental milestones: developmental delay; sitting at 12 months of age, walking at 19 months; speech delay. Language and communication evaluation: poor vocabulary, pronounciation difficulties, able to combine 2-3 words and speak in jargon. Motor and musculoskeletal evaluation: brachydactyly; bone age delay (delayed bone maturation of 6 months at age of 20 months, carpal and finger maturation assessed as equivalent to 12 months and 32-36 months respectively at age fo 3 years); bilateral fifth figner clinodactyly. Behavioral/psychiatric evaluation: self-injurious and behavioral disorders due to communication difficulties reported at 22 months of age; improvement in communication skills improved behavior and was described as a friendly and sociable child. Additional medical history: congenital dermal melanocytosis. Dysmorphic features: full cheeks, everted and thick lower lip, synophrys, broad eyebrows, upslanted palpebral fissures, epicanthic folds. Growth parameters: height -2.5 SD, weight -2 SD, head circumference -2 SD. Family history: only child born to non-consanguineous parents.
 Intellectual disability
 10967057
 13308445
  2341389
 GRCh38
 Duplication
 Yes
  welham_15_ASD_discovery_cases-case1
 2 yrs.
 F
 Not ASD
 Language and communication evaluation: fewer than 30 words or signs. Motor and musculoskeletal evaluation: not walking independently. Behavioral/psychiatric evaluation: 1 clinically significant repetitive behavior on RBQ. Visual and auditory evaluation: vision not reported to be normal; hearing reported to be normal. Additional medical history: eye problems, pectius excavatum.
 Self-help category (Wessex self-help subscale): partly able.
 12663315
 13400236
  736922
 GRCh38
 Deletion
 N/A
  welham_15_ASD_discovery_cases-case3
 4 yrs.
 F
 Not ASD
 Case failed to meet criteria for ASD using SCQ (total SCQ score of 12). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 2 clinically significant repetitive behaviors on RBQ; meets clinical cut-off for impulsivity (95th %ile) on TAQ; meets clinical cut-off for overactivity (95th %ile) on TAQ; self-injurious behavior and aggressive behavior exhibited during previous month (CBQ); disruption or destruction of property (CBQ); sleep score in "problem" range (ISQm). Visual and auditory evaluation: vision reported to be normal; hearing reported to be normal. Additional medical history: ear problems, dental problems, gastrointestinal difficulties, bowel problems, liver or kidney problems, skin problems.
 Self-help category (Wessex self-help subscale): partly able.
 N/A
 N/A
  N/A
 Unknown
 Deletion
 N/A
  welham_15_ASD_discovery_cases-case4
 4 yrs.
 F
 ASD
 Case met criteria for ASD using SCQ (total SCQ score of 16). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 9 clinically significant repetitive behaviors on RBQ; self-injurious behavior and aggressive behavior exhibited during previous month (CBQ); disruption or destruction of property (CBQ); sleep score in "problem" range (ISQm). Epilepsy/seizures: positive for epilepsy/seizures/neurological referrals. Visual and auditory evaluation: vision reported to be normal; hearing reported to be normal. Additional medical history: gastrointestinal difficulties, heart abnormalities or circulatory problems, dysphoria and aspiration.
 Self-help category (Wessex self-help subscale): partly able.
 10627321
 12022169
  1395000
 Unknown
 Deletion
 N/A
  welham_15_ASD_discovery_cases-case5
 7 yrs.
 M
 ASD
 Case met criteria for ASD using SCQ (total SCQ score of 21). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 13 clinically significant repetitive behaviors on RBQ; self-injurious behavior and aggressive behavior exhibited during previous month (CBQ); disruption or destruction of property (CBQ); sleep score in "problem" range (ISQm). Epilepsy/seizures: positive for epilepsy/seizures/neurological referrals. Visual and auditory evaluation: vision not reported to be normal; hearing reported to be normal. Additional medical history: eye problems, ear problems, cleft palate, gastrointestinal difficulties, heart abnormalities or circulatory problems, problems with genitalia, lung or respiratory problems, skin problems.
 Self-help category (Wessex self-help subscale): partly able.
 8669166
 12088185
  3419020
 GRCh38
 Deletion
 N/A
  welham_15_ASD_discovery_cases-case6
 7 yrs.
 F
 ASD
 Case met criteria for ASD using SCQ (total SCQ score of 17). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 4 clinically significant repetitive behaviors on RBQ; aggressive behavior exhibited during previous month (CBQ); disruption or destruction of property (CBQ). Visual and auditory evaluation: vision not reported to be normal; hearing reported to be normal. Additional medical history: dental problems, cleft palate, skin problems.
 Self-help category (Wessex self-help subscale): able.
 10175457
 10929781
  754325
 GRCh38
 Deletion
 N/A
  welham_15_ASD_discovery_cases-case7
 9 yrs.
 M
 Autism
 Case met criteria for autism using SCQ (total SCQ score of 30). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 7 clinically significant repetitive behaviors on RBQ; self-injurious behavior and aggressive behavior exhibited during previous month (CBQ); disruption or destruction of property (CBQ); sleep score in "problem" range (ISQm). Visual and auditory evaluation: vision not reported to be normal; hearing not reported to be normal. Additional medical history: eye problems, ear problems, dental problems, gastrointestinal difficulties, bowel problems, problems with genitalia.
 Self-help category (Wessex self-help subscale): partly able.
 9735443
 11228001
  1492559
 GRCh38
 Deletion
 N/A
  welham_15_ASD_discovery_cases-case8
 16 yrs.
 F
 Not ASD
 Case failed to meet criteria for ASD using SCQ (total SCQ score of 14). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 4 clinically signficant repetitive behaviors on RBQ; sleep score in "problem" range (ISQm). Epilepsy/seizures: positive for epilepsy/seizures/neurological referrals. Visual and auditory evaluation: vision not reported to be normal; hearing reported to be normal. Additional medical history: eye problems, dental problems, cleft palate, gastrointestinal difficulties, bowel problems, heart abnormalities or circulatory problems, hernia, liver or kidney problems, diabetes or thyroid fucntion problems.
 Self-help category (Wessex self-help subscale): able.
 10164429
 10760368
  595940
 GRCh38
 Deletion
 N/A
  welham_15_ASD_discovery_cases-case9
 16 yrs.
 M
 ASD
 Case met criteria for ASD using SCQ (total SCQ score of 19). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 3 clinically significant repetitive behaviors on RBQ; aggressive behavior exhibited during previous month (CBQ); disruption or destruction of property (CBQ). Epilepsy/seizures: positive for epilepsy/seizures/neurological referrals. Visual and auditory evaluation: vision reported to be normal; hearing reported to be normal. Additional medical history: eye problems, ear problems, dental problems, bowel problems, problems with genitalia, hernia, lung or respiratory problems, diabetes or thyroid function problems, skin problems, very high cholesterol.
 Self-help category (Wessex self-help subscale): able.
 10666186
 11238971
  572786
 GRCh38
 Deletion
 N/A
  xiang_21_ASD/DD/ID_discovery_cases-caseP16
 6 yrs.
 M
 Developmental delay and intellectual disability
 Global developmental delay, neonatal feeding difficulties, strabismus
 Moderate intellectual disability
 12933528
 13116791
  183264
 GRCh38
 Deletion
 Yes
  yap_21_ASD_discovery_cases-case3305052
 NA
 M
 ASD
 MSEL non-verbal score 76 and composite score 58
 
 10498642
 12353620
  1854979
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case541
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 7112100
 7212245
  100146
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case542
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 12405336
 12435375
  30040
 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
  brandler_18_ASD_discovery_controls-controlSSC00773
  N/A
  F
  Control
  Control from SSC_phase1 cohort
 
  11040330
  11041403
  1074
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB120069_1007854769
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6957866
  7054932
  97067
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB201461_1007854130
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6957866
  7018858
  60993
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB290777_1007875864
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6951423
  7018858
  67436
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB299918_1007873981
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12405336
  12438271
  32936
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB317750_1007842099
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6957866
  7018858
  60993
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB673952_1007841010
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6957866
  7018858
  60993
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB746449_1007844499
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11804370
  11950569
  146200
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB944304_1007853858
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12389335
  12429289
  39955
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB947804_1007875842
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8597466
  8681665
  84200
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900313_900313
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12389335
  12429289
  39955
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900605_900605
  N/A
  N/A
  Control
  No previous psychiatric history
 
  9573588
  9604755
  31168
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901093_901093
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6957866
  7018858
  60993
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901155_901155
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6957866
  7018858
  60993
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902871_902871
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6957866
  7018858
  60993
  GRCh38
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12252.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12252. SRS score of 41.
 
  11325397
  11337399
  12003
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control12616.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12616. SRS score of 38.
 
  8094445
  8103687
  9243
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control12626.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12626. SRS score of 45.
 
  7075074
  7083744
  8671
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control12780.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12780. SRS score of 49.
 
  7075074
  7083744
  8671
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11512.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  12056239
  12074159
  17921
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11679.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  7669326
  7697589
  28264
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12041.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  10051977
  10056061
  4085
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12252.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  11325397
  11337399
  12003
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12616.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  8094445
  8103687
  9243
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12821.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  12652362
  12658510
  6149
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13234.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  10018730
  10021749
  3020
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13311.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  10256707
  10259813
  3107
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13585.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6974299
  6989162
  14864
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13620.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  10252396
  10259813
  7418
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13632.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  11128007
  11194042
  66036
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13916.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  12043804
  12053261
  9458
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14495.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6974299
  6991132
  16834
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11679.s1
  NA
  M
  Control
  NA
  NA
  7668541
  7720803
  52263
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C37423A
  N/A
  F
  Control
  NIMH Control (NIMH ID 25921)
 
  6974625
  6990798
  16174
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C39233A
  N/A
  M
  Control
  NIMH Control (NIMH ID 93495)
 
  8894883
  8916899
  22017
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C40490A
  N/A
  M
  Control
  NIMH Control (NIMH ID 47570)
 
  7524959
  7528705
  3747
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C41382A
  N/A
  M
  Control
  NIMH Control (NIMH ID 66355)
 
  12135769
  12583558
  447790
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C43560
  N/A
  F
  Control
  NIMH Control (NIMH ID 36592)
 
  9828336
  9830010
  1675
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11117.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  6957866
  7018858
  60993
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11346.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  11810065
  11837280
  27216
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11360.s1
  8.4
  F
  Control (matched sibling)
  NA
  NA
  10338576
  10347871
  9296
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11679.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  7693308
  7720827
  27520
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11794.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  11129377
  11195825
  66449
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11860.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  10766165
  10770339
  4175
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12052.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  9331837
  9339509
  7673
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12532.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  6957866
  7018858
  60993
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12616.s1
  7.6
  M
  Control (matched sibling)
  NA
  NA
  8094478
  8106184
  11707
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12690.s1
  10.6
  M
  Control (matched sibling)
  NA
  NA
  12386120
  12429289
  43170
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13018.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  12405336
  12429289
  23954
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 bassuk_13_ID/EP_discovery_cases-case1
 
 Maternal
 Maternal
 Multi-generational
 Segregated
 HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF700,ZNF136,ZNF563
 
 bassuk_13_ID/EP_discovery_cases-case2
 
 Maternal
 Maternal
 Multi-generational
 Segregated
 HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF700,ZNF136,ZNF563
 
 bassuk_13_ID/EP_discovery_cases-case3
 
 
 Unknown (not maternal)
 Multi-generational
 Segregated
 HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF700,ZNF136,ZNF563
 
 brandler_18_ASD_discovery_cases-caseREACH000467
 SNP VCF
 
 Unknown
 
 
 TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,RGL3
 
 brandler_18_ASD_discovery_cases-caseSJD_55.3
 PCR or SNP data validation
 
 Paternal
 
 
 PDE4A
 
 brandler_18_ASD_discovery_cases-caseSJD_68.3
 PCR or SNP data validation
 
 Maternal
 
 
 ILF3
 
 ceylan_18_DD/ID_discovery_cases-case19
 
 
 De novo
 
 
 TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,RGL3,ZNF700,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,ZNF490,CACNA1A
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299787
 qPCR
 
 De novo
 
 
 RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,ZNF490,CACNA1A
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299888
 
 
 Maternal
 
 
 RPS4XP22,ZNF561,ZNF561-AS1,ZNF562,ZNF121,ZNF812P
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300041
 
 
 Unknown
 
 
 CACNA1A
 
 egger_14_ASD_discovery_cases-caseA161
 Microarray
 
 Maternal
 
 Unknown
 ZNF700
 
 engchuan_15_ASD_discovery_cases-case14020_400
 
 
 Unknown
 
 
 FLJ25758,ADGRE4P
 
 engchuan_15_ASD_discovery_cases-case14141_2390
 
 
 Unknown
 
 
 ZNF799
 
 engchuan_15_ASD_discovery_cases-case14379_4920
 
 
 Unknown
 
 
 ZNF799
 
 engchuan_15_ASD_discovery_cases-case14391_5000
 
 
 Unknown
 
 
 ZNF799
 
 engchuan_15_ASD_discovery_cases-case18182_303
 
 
 Unknown
 
 
 FLJ25758,ADGRE4P
 
 engchuan_15_ASD_discovery_cases-case4177_1
 
 
 Unknown
 
 
 FLJ25758,ADGRE4P
 
 engchuan_15_ASD_discovery_cases-case8451_201
 
 
 Unknown
 
 
 ZNF557
 
 engchuan_15_ASD_discovery_cases-case8719_201
 
 
 Unknown
 
 
 FLJ25758,ADGRE4P
 
 girirajan_13a_ASD_discovery_cases-12426.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,ACTL9,OR2Z1,RPL23AP78,CCL25,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,ADAMTS10,LINC01862,ZNF558,ELAVL1,FBN3,CERS4,RAB11B-AS1
 
 girirajan_13a_ASD_discovery_cases-14075.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 PDE4A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001176
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 MCOLN1,MIR6792,XAB2,PET100,PCP2,STXBP2,RPS27AP19,RETN,MCEMP1,CD209,RPL21P129,CLEC4GP1,EXOSC3P2,PEX11G,TEX45,ZNF358,PNPLA6,TRAPPC5,FCER2,CLEC4M,INSR,ARHGEF18,CAMSAP3,CLEC4G
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004309
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,SPC24,RGL3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004614
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ZNF491,ZNF440,ZNF439
 
 kanduri_15_ASD_discovery_cases-case2974
 
 
 Paternal
 Unknown
 Unknown
 EMR4P,FLJ25758 (non-coding RNA, exonic)
 
 klaassens_14_DD/ASD_discovery_cases-case1
 qPCR
 
 De novo
 
 
 NFIX
 
 klaassens_14_DD/ASD_discovery_cases-case2
 qPCR
 
 De novo
 
 
 RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,TNPO2,HOOK2,MAST1,TRMT1,ZNF490,CACNA1A
 
 klaassens_14_DD/ASD_discovery_cases-case3
 qPCR
 
 De novo
 
 
 LYL1,STX10,IER2,RPL12P42,NFIX,NACC1,TRMT1,CACNA1A
 
 klaassens_14_DD/ASD_discovery_cases-case4
 qPCR
 
 De novo
 
 
 SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,TNPO2,HOOK2,MAST1,TRMT1,CACNA1A
 
 krumm_13_ASD_discovery_cases-case11479.p1
 
 
 Maternal
 Simplex
 Segregated
 CCDC151,PRKCSH
 
 krumm_13_ASD_discovery_cases-case12616.p1
 
 
 Paternal
 Simplex
 Not segregated
 FBN3
 
 krumm_13_ASD_discovery_cases-case12626.p1
 
 
 Paternal
 Simplex
 Not segregated
 ZNF557
 
 krumm_13_ASD_discovery_cases-case13504.p1
 
 
 Paternal
 Simplex
 Not segregated
 ZNF557
 
 krumm_15_ASD_discovery_cases-case11028.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 QTRT1
 
 krumm_15_ASD_discovery_cases-case11028.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 TMED1,C19orf38,DNM2
 
 krumm_15_ASD_discovery_cases-case11479.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 CCDC151,PRKCSH
 
 krumm_15_ASD_discovery_cases-case11679.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 RETN,MCEMP1,TRAPPC5,FCER2
 
 krumm_15_ASD_discovery_cases-case12368.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 RGL3
 
 krumm_15_ASD_discovery_cases-case12426.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 TGFBR3L,SNAPC2,CTXN1,NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,LRRC8E,MAP2K7,TIMM44,CCL25,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,ELAVL1,FBN3,CERS4,RAB11B-AS1
 
 krumm_15_ASD_discovery_cases-case12532.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 ADGRE4P
 
 krumm_15_ASD_discovery_cases-case12572.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 CALR
 
 krumm_15_ASD_discovery_cases-case12616.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 FBN3
 
 krumm_15_ASD_discovery_cases-case12941.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ADGRE4P
 
 krumm_15_ASD_discovery_cases-case13015.p1
 aCGH
 
 Maternal
 Simplex
 Unknown
 ZNF846
 
 krumm_15_ASD_discovery_cases-case13043.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 CD209,RPL21P129,CLEC4M
 
 krumm_15_ASD_discovery_cases-case13139.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 ADGRE4P
 
 krumm_15_ASD_discovery_cases-case13234.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 RDH8
 
 krumm_15_ASD_discovery_cases-case13585.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ADGRE4P
 
 krumm_15_ASD_discovery_cases-case13620.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MRPL4,ICAM1
 
 krumm_15_ASD_discovery_cases-case13661.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 ADGRE4P
 
 krumm_15_ASD_discovery_cases-case13911.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 MIR7974,ELAVL3,ZNF653,ECSIT
 
 krumm_15_ASD_discovery_cases-case14186.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 ZNF557,INSR
 
 krumm_15_ASD_discovery_cases-case14495.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ADGRE4P
 
 kushima_18_ASD_discovery_cases-caseASD0862
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Not simplex
 Unknown
 NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,ACTL9,OR2Z1,RPL23AP78,MBD3L1,BOLA3P2,OR1M4P,OR7G2,OR7G1,OR7G15P,OR7G3,OR7D2,ELOCP29,OR7D4,OR7D1P,OR7E24,OR7E18P,OR7E19P,OR7H1P,ZNF426-DT,RPS4XP22,UBE2L4,RPL10P15,UBL5,RDH8,CCL25,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,ADAMTS10,LINC01862,ZNF558,OR1M1,ZNF317,OR7E16P,OR7E25P,ZNF559,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF561-AS1,ZNF562,ZNF846,FBXL12,PIN1,OLFM2,ELAVL1,FBN3,CERS4,MUC16,ZNF699,ZNF121,ZNF812P,COL5A3,RAB11B-AS1
 
 larson_17_ASD_discovery_cases-case109
 
 
 Unknown
 
 Unknown
 FLJ25758,ADGRE4P
 
 larson_17_ASD_discovery_cases-case110
 
 
 Unknown
 
 Unknown
 FLJ25758,ADGRE4P
 
 levy_11_ASD_discovery_cases-11028.p1
 
 
 Maternal
 Simplex
 Segregated
 QTRT1,MIR638,DNM2
 
 levy_11_ASD_discovery_cases-11245.p1
 
 
 Paternal
 Simplex
 Segregated
 CD320
 
 levy_11_ASD_discovery_cases-11376.p1
 
 
 Maternal
 Simplex
 Segregated
 MUC16
 
 levy_11_ASD_discovery_cases-11679.p1
 
 
 Maternal
 Simplex
 Not segregated
 RETN,MCEMP1,TRAPPC5,FCER2
 
 levy_11_ASD_discovery_cases-11721.p1
 
 
 Maternal
 Simplex
 Segregated
 ZNF557
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown79
 
 
 Maternal
 Unknown
 Unknown
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown80
 
 
 Maternal
 Unknown
 Unknown
 CD209,RPL21P129,FCER2,CLEC4M,CLEC4G
 
 monteiro_19_ASD_discovery_cases_case31
 
 
 Paternal
 
 
 MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,TNPO2,ZNF490
 
 pinto_14_ASD_discovery_cases2-case14391_5000
 qPCR
 
 Paternal
 Simplex
 (no siblings)
 ZNF799
 
 poultney_13_ASD_discovery_cases-case03HI2497B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ADGRE4P
 
 poultney_13_ASD_discovery_cases-case04HI2957A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF426-DT,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF561-AS1,ZNF562,ZNF121
 
 poultney_13_ASD_discovery_cases-case04HI2957A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF700,ZNF136,ZNF563,ZNF490
 
 poultney_13_ASD_discovery_cases-case04HI3174A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,ZNF709,ZNF564,ZNF490
 
 poultney_13_ASD_discovery_cases-case04HI3174A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF426-DT,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF121
 
 poultney_13_ASD_discovery_cases-case98HI0027A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF700,ZNF136,ZNF563,ZNF490
 
 poultney_13_ASD_discovery_cases-case98HI0582A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HOOK2
 
 poultney_13_ASD_discovery_cases-case99HI0922A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,ZNF709,ZNF564,ZNF490
 
 poultney_13_ASD_discovery_cases-case99HI0922A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF426-DT,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF561-AS1,ZNF562,ZNF121
 
 poultney_13_ASD_discovery_cases-case99HI0933A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF426-DT,RPS4XP22,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF561-AS1,ZNF562,ZNF846,ZNF121,ZNF812P
 
 poultney_13_ASD_discovery_cases-case99HI0933A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF700,ZNF136,ZNF563,ZNF490
 
 poultney_13_ASD_discovery_cases-case99HI1079A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ADGRE4P
 
 prasad_12_ASD_discovery_cases-case128122
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case60416
 
 
 Unknown
 Unknown
 Unknown
 ZNF844
 
 prasad_12_ASD_discovery_cases-case68785
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case76821-L
 
 
 Unknown
 Unknown
 Unknown
 LRRC8E
 
 roberts_13_ASD/DD/ID_discovery_cases-ASDcase12
 BACs aCGH or FISH
 
 Maternal
 Unknown
 Unknown
 TIMM29,RN7SL192P,MIR6886,TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,YIPF2,LDLR,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,CARM1,SMARCA4,SPC24,RGL3
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1304-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 FLJ25758,ADGRE4P
 
 sanders_11_ASD_discovery_cases-11028.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 MIR6793,TMED1,C19orf38,DNM2
 
 sanders_11_ASD_discovery_cases-11073.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF799
 
 sanders_11_ASD_discovery_cases-11129.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11376.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 MUC16
 
 sanders_11_ASD_discovery_cases-11437.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF440,ZNF439
 
 sanders_11_ASD_discovery_cases-11679.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FCER2
 
 sanders_11_ASD_discovery_cases-11681.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ZNF799
 
 sanders_11_ASD_discovery_cases-11765.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11860.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 DNM2
 
 sanders_11_ASD_discovery_cases-12189.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF799
 
 sanders_11_ASD_discovery_cases-12266.p1
 
 
 Unknown
 Simplex (trio)
 NA
 NDUFA7,CD320,RPS28
 
 sanders_11_ASD_discovery_cases-12375.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12423.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 NDUFA7,CD320,RPS28
 
 sanders_11_ASD_discovery_cases-12426.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TGFBR3L,SNAPC2,CTXN1,LRRC8E,MAP2K7,TIMM44
 
 sanders_11_ASD_discovery_cases-12426.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,FBN3,CERS4,RAB11B-AS1
 
 sanders_11_ASD_discovery_cases-12444.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12532.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FLJ25758,ADGRE4P
 
 sanders_11_ASD_discovery_cases-12616.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FBN3
 
 sanders_11_ASD_discovery_cases-12638.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 NDUFA7,CD320,RPS28,KANK3
 
 sanders_11_ASD_discovery_cases-12690.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF799
 
 sanders_11_ASD_discovery_cases-12941.p1
 
 
 Both parents
 Simplex (trio)
 NA
 FLJ25758,ADGRE4P
 
 trimouille_17_ID_discovery_cases-case4
 qPCR or FISH (segregation analysis)
 
 De novo
 Simplex
 Likely segregated
 RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,TNPO2,HOOK2,MAST1,TRMT1,ZNF490,CACNA1A
 
 trimouille_17_ID_discovery_cases-case5
 qPCR or FISH (segregation analysis)
 
 De novo
 
 
 KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,TRMT1,CACNA1A
 
 trimouille_17_ID_discovery_cases-case6
 
 
 Unknown
 
 
 KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,TRMT1,CACNA1A
 
 trimouille_17_ID_discovery_cases-case7
 qPCR or FISH (segregation analysis)
 
 De novo
 
 
 RN7SL192P,MIR6886,TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,LDLR,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,SMARCA4,SPC24,RGL3,ZNF700,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,ZNF490,CACNA1A
 
 trimouille_17_ID_discovery_cases-case9
 qPCR or FISH (segregation analysis)
 
 De novo
 
 
 RN7SL192P,MIR6886,TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,LDLR,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,SMARCA4,SPC24,RGL3,ZNF700,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,ZNF490,CACNA1A
 
 welham_15_ASD_discovery_cases-case1
 CNV validation not reported
 
 Unknown
 Unknown
 Unknown
 WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,TNPO2,HOOK2,MAST1,TRMT1,CACNA1A
 
 welham_15_ASD_discovery_cases-case3
 CNV validation not reported
 
 Unknown
 Unknown
 Unknown
 Gene content N/A
 
 welham_15_ASD_discovery_cases-case4
 CNV validation not reported
 
 Unknown
 Unknown
 Unknown
 Gene content N/A
 
 welham_15_ASD_discovery_cases-case5
 CNV validation not reported
 
 Unknown
 Unknown
 Unknown
 ACTL9,OR2Z1,RPL23AP78,MBD3L1,BOLA3P2,OR1M4P,OR7G2,OR7G1,OR7G15P,OR7G3,OR7D2,ELOCP29,OR7D4,OR7D1P,OR7E24,OR7E18P,OR7E19P,OR7H1P,ZNF426-DT,RPS4XP22,UBE2L4,RPL10P15,UBL5,RDH8,MIR5589,SNORD105,SNORD105B,P2RY11,EIF3G,MIR4322,ICAM4,ICAM5,FDX2,MIR1181,S1PR5,RNU7-140P,MIR1238,KRI1,ILF3-DT,QTRT1,MIR638,MIR4748,MIR199A1,MIR6793,TMED1,TIMM29,RN7SL192P,MIR6886,TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,ZNF558,OR1M1,ZNF317,OR7E16P,OR7E25P,ZNF559,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF561-AS1,ZNF562,ZNF846,FBXL12,PIN1,OLFM2,C3P1,PPAN-P2RY11,PPAN,MRPL4,ICAM1,ZGLP1,RAVER1,ICAM3,CDC37,PDE4A,KEAP1,ATG4D,CDKN2D,AP1M2,ILF3,C19orf38,YIPF2,LDLR,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,MUC16,ZNF699,ZNF121,ZNF812P,COL5A3,C19orf66,ANGPTL6,DNMT1,S1PR2,TYK2,SLC44A2,DNM2,CARM1,SMARCA4,SPC24,RGL3,ZNF700
 
 welham_15_ASD_discovery_cases-case6
 CNV validation not reported
 
 Unknown
 Unknown
 Unknown
 MIR4322,ICAM4,ICAM5,FDX2,MIR1181,S1PR5,RNU7-140P,MIR1238,KRI1,ILF3-DT,QTRT1,MIR638,MIR4748,MIR199A1,MIR6793,TMED1,TIMM29,MRPL4,ICAM1,ZGLP1,RAVER1,ICAM3,CDC37,PDE4A,KEAP1,ATG4D,CDKN2D,AP1M2,ILF3,C19orf38,YIPF2,DNMT1,S1PR2,TYK2,SLC44A2,DNM2,CARM1
 
 welham_15_ASD_discovery_cases-case7
 CNV validation not reported
 
 Unknown
 Unknown
 Unknown
 UBE2L4,RPL10P15,UBL5,RDH8,MIR5589,SNORD105,SNORD105B,P2RY11,EIF3G,MIR4322,ICAM4,ICAM5,FDX2,MIR1181,S1PR5,RNU7-140P,MIR1238,KRI1,ILF3-DT,QTRT1,MIR638,MIR4748,MIR199A1,MIR6793,TMED1,TIMM29,RN7SL192P,MIR6886,ZNF846,FBXL12,PIN1,OLFM2,C3P1,PPAN-P2RY11,PPAN,MRPL4,ICAM1,ZGLP1,RAVER1,ICAM3,CDC37,PDE4A,KEAP1,ATG4D,CDKN2D,AP1M2,ILF3,C19orf38,YIPF2,LDLR,KANK2,DOCK6,COL5A3,C19orf66,ANGPTL6,DNMT1,S1PR2,TYK2,SLC44A2,DNM2,CARM1,SMARCA4,SPC24
 
 welham_15_ASD_discovery_cases-case8
 CNV validation not reported
 
 Unknown
 Unknown
 Unknown
 MIR4322,ICAM4,ICAM5,FDX2,MIR1181,S1PR5,RNU7-140P,MIR1238,KRI1,ILF3-DT,QTRT1,MIR638,MRPL4,ICAM1,ZGLP1,RAVER1,ICAM3,CDC37,PDE4A,KEAP1,ATG4D,CDKN2D,AP1M2,ILF3,DNMT1,S1PR2,TYK2,SLC44A2,DNM2
 
 welham_15_ASD_discovery_cases-case9
 CNV validation not reported
 
 Unknown
 Unknown
 Unknown
 QTRT1,MIR638,MIR4748,MIR199A1,MIR6793,TMED1,TIMM29,RN7SL192P,MIR6886,ILF3,C19orf38,YIPF2,LDLR,KANK2,DOCK6,ANGPTL8,DNM2,CARM1,SMARCA4,SPC24
 
 xiang_21_ASD/DD/ID_discovery_cases-caseP16
 qPCR
 
 De novo
 
 
 CALR,FARSA,TRMT1,GADD45GIP1,DAND5,LYL1,NFIX,RAD23A,MIR6515
 
 yap_21_ASD_discovery_cases-case3305052
 
 
 Unknown
 
 
 CDKN2D,ACP5,ELAVL3,EPOR,CNN1,DNM2,TSPAN16,ZNF44,ECSIT,ZNF823,S1PR5,DOCK6,SLC44A2,ANGPTL8,RGL3,YIPF2,PLPPR2,KRI1,ZNF442,ELOF1,QTRT1,ZNF625,ATG4D,TIMM29,ZNF700,ZNF439,ZNF440,ZNF441,SWSAP1,ZNF491,ZNF653,CCDC159,ZNF563,ILF3-DT,SPC24,ZNF627,ZNF433,ILF3,ZNF844,ZNF763,C19orf38,TMEM205,ZNF788P,MIR199A1,ZNF833P,HNRNPA1P10,MIR638,ZNF878,LDLR,GAPDHP76,MIR1238,ZNF887P,RSL24D1P8,ZNF625-ZNF20,MIR4748,RNA5SP467,RNA5SP464,RNA5SP466,RNA5SP465,PRKCSH,ZNF433-AS1,MIR6886,MIR6793,MIR7974,RNU7-140P,SMARCA4,RN7SL833P,RN7SL192P,ZNF20,ZNF136,ZNF69,HIKESHIP2,RAB3D,KEAP1,AP1M2,TMED1,CARM1,KANK2
 
 yin_16_ASD_discovery_cases-case541
 
 
 Unknown
 Unknown
 Unknown
 INSR
 
 yin_16_ASD_discovery_cases-case542
 
 
 Unknown
 Unknown
 Unknown
 ZNF443
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC00773
  Not available
 
  Paternal
 
 
  SMARCA4
 
engchuan_15_ASD_discovery_controls-controlB120069_1007854769
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,ADGRE4P
 
engchuan_15_ASD_discovery_controls-controlB201461_1007854130
 
 
  Unknown
 
 
  FLJ25758,ADGRE4P
 
engchuan_15_ASD_discovery_controls-controlB290777_1007875864
 
 
  Unknown
 
 
  FLJ25758,ADGRE4P
 
engchuan_15_ASD_discovery_controls-controlB299918_1007873981
 
 
  Unknown
 
 
  ZNF443
 
engchuan_15_ASD_discovery_controls-controlB317750_1007842099
 
 
  Unknown
 
 
  FLJ25758,ADGRE4P
 
engchuan_15_ASD_discovery_controls-controlB673952_1007841010
 
 
  Unknown
 
 
  FLJ25758,ADGRE4P
 
engchuan_15_ASD_discovery_controls-controlB746449_1007844499
 
 
  Unknown
 
 
  ZNF491,ZNF440,ZNF439,ZNF69,ZNF700
 
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
 
 
  Unknown
 
 
  ZNF799
 
engchuan_15_ASD_discovery_controls-controlB947804_1007875842
 
 
  Unknown
 
 
  ADAMTS10,LINC01862
 
engchuan_15_ASD_discovery_controls-controlHABC_900313_900313
 
 
  Unknown
 
 
  ZNF799
 
engchuan_15_ASD_discovery_controls-controlHABC_900605_900605
 
 
  Unknown
 
 
  ZNF561,ZNF121
 
engchuan_15_ASD_discovery_controls-controlHABC_901093_901093
 
 
  Unknown
 
 
  FLJ25758,ADGRE4P
 
engchuan_15_ASD_discovery_controls-controlHABC_901155_901155
 
 
  Unknown
 
 
  FLJ25758,ADGRE4P
 
engchuan_15_ASD_discovery_controls-controlHABC_902871_902871
 
 
  Unknown
 
 
  FLJ25758,ADGRE4P
 
krumm_13_ASD_discovery_controls-control12252.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  TSPAN16,RAB3D
 
krumm_13_ASD_discovery_controls-control12616.s1
 
 
  Paternal
  Simplex
 
  FBN3
 
krumm_13_ASD_discovery_controls-control12626.s1
 
 
  Paternal
  Simplex
 
  ZNF557
 
krumm_13_ASD_discovery_controls-control12780.s1
 
 
  Paternal
  Simplex
 
  ZNF557
 
krumm_15_ASD_discovery_controls-control11512.s1
  Illumina 1M
 
  Maternal
 
 
  RNA5SP466,ZNF844
 
krumm_15_ASD_discovery_controls-control11679.s1
  Illumina 1MDuo
 
  Maternal
 
 
  RETN,MCEMP1,TRAPPC5,FCER2
 
krumm_15_ASD_discovery_controls-control12041.s1
  Illumina 1MDuo
 
  Maternal
 
 
  C3P1
 
krumm_15_ASD_discovery_controls-control12252.s1
  Illumina 1MDuo
 
  Maternal
 
 
  TSPAN16,RAB3D
 
krumm_15_ASD_discovery_controls-control12616.s1
  Illumina 1MDuo
 
  Paternal
 
 
  FBN3
 
krumm_15_ASD_discovery_controls-control12821.s1
  Illumina 1MDuo
 
  Maternal
 
 
  MAN2B1
 
krumm_15_ASD_discovery_controls-control13234.s1
  1M-Duov3
 
  Maternal
 
 
  RDH8
 
krumm_15_ASD_discovery_controls-control13311.s1
  1M-Duov3
 
  Maternal
 
 
  MRPL4
 
krumm_15_ASD_discovery_controls-control13585.s1
  1M-Duov3
 
  Maternal
 
 
  ADGRE4P
 
krumm_15_ASD_discovery_controls-control13620.s1
  1M-Duov3
 
  Maternal
 
 
  MRPL4
 
krumm_15_ASD_discovery_controls-control13632.s1
  Omni2.5-4v1
 
  Paternal
 
 
  LDLR,KANK2,SPC24
 
krumm_15_ASD_discovery_controls-control13916.s1
  Omni2.5-4v1
 
  Maternal
 
 
  ZNF878,ZNF433-AS1
 
krumm_15_ASD_discovery_controls-control14495.s1
  Omni2.5-4v1
 
  Paternal
 
 
  ADGRE4P
 
levy_11_ASD_discovery_controls-11679.s1
 
 
  Maternal
  Simplex
  NA
  RETN,MCEMP1,TRAPPC5,FCER2
 
poultney_13_ASD_discovery_controls-control04C37423A
 
 
  Unknown
 
 
  ADGRE4P
 
poultney_13_ASD_discovery_controls-control05C39233A
 
 
  Unknown
 
 
  MUC16
 
poultney_13_ASD_discovery_controls-control05C40490A
 
 
  Unknown
 
 
  MCOLN1
 
poultney_13_ASD_discovery_controls-control05C41382A
 
 
  Unknown
 
 
  ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF136,ZNF563,ZNF490
 
poultney_13_ASD_discovery_controls-control05C43560
 
 
  Unknown
 
 
  UBL5
 
sanders_11_ASD_discovery_controls-11117.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FLJ25758,ADGRE4P
 
sanders_11_ASD_discovery_controls-11346.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF440
 
sanders_11_ASD_discovery_controls-11360.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ICAM3
 
sanders_11_ASD_discovery_controls-11679.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FCER2
 
sanders_11_ASD_discovery_controls-11794.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LDLR,KANK2,SPC24
 
sanders_11_ASD_discovery_controls-11860.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DNM2
 
sanders_11_ASD_discovery_controls-12052.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF559,ZNF559-ZNF177
 
sanders_11_ASD_discovery_controls-12532.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FLJ25758,ADGRE4P
 
sanders_11_ASD_discovery_controls-12616.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FBN3
 
sanders_11_ASD_discovery_controls-12690.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF799
 
sanders_11_ASD_discovery_controls-13018.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.