HELP     Sign In

15q26.3CNV Type: Deletion-Duplication


Largest CNV size: 555523 bp

Statistics Box:
Number of Reports: 33



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
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with 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
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication
NA
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion-Duplication
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
NA
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brand_15_ASD_discovery_cases
 ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
 259
 Diagnosis of ASD
 N/A
 N/A
 34513
 0
 2
 2
 ching_10_ASD/DD/MR_discovery_cases
 Subjects referred to Children's Hospital Boston from March 2007 to Jan. 2009
 3540
 Developmental disorders [autism spectrum disorders (ASD), developmental delay (DD), and/or mental retardation (MR)] or multiple congenital malformations
 
 
 783000
 0
 1
 1
 coe_14_ASD/DD/ID_discovery_cases
 Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
 29085
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 3160000
 11
 4
 15
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 865003
 0
 1
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 373000
 0
 2
 2
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 707843
 4
 17
 21
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 216870
 2
 3
 5
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 773400
 0
 2
 2
 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
 551452
 1
 3
 4
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 2994437
 9
 6
 15
 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
 269863
 1
 3
 4
 kim_18_DD/ID_discovery_cases
  NA NA
 Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
 50
 All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
 Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
 52.0% Male
 400000
 0
 1
 1
 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
 37248
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 443878
 0
 16
 16
 lee_17_ASD/DD/ID/MCA_discovery_cases
 Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
 42
 Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
 Range, newborn-38 yrs.
 69.05% Male
 21415
 0
 2
 2
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 800000
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 238555
 0
 1
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 370000
 0
 3
 3
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 555523
 0
 1
 1
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 74097
 1
 0
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 715000
 0
 1
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 1030793
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 260004
 0
 3
 3
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 239502
 1
 3
 4
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 543736
 1
 2
 3
 qiao_12_ASD/ID_discovery_cases
 Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
 52
 ASD and/or ID (intellectual disability)
 NA
 NA
 165000
 1
 0
 1
 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
 634000
 1
 0
 1
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 630774
 0
 3
 3
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 50125
 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
 267146
 6
 12
 18
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 2804000
 2
 0
 2
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 122905
 0
 2
 2
 xu_16_ASD/DD/ID_discovery_cases
 Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
 115
 66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
 Range, 18 months-15.1 years (mean age, 5.7 years)
 72.17% Male
 1600000
 0
 1
 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
 47646
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 coe_14_ASD/DD/ID_discovery_controls
 Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
 19584
 Control
 N/A
 N/A
 3160000
 1
 0
 1
 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
 396728
 5
 20
 25
 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
 N/A
 N/A
 N/A
 1
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 655817
 1
 1
 2
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 276822
 0
 2
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 318418
 3
 16
 19
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 238555
 0
 1
 1
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 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)
 61569
 0
 1
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 543736
 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.
 
 636963
 12
 14
 26
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 122905
 N/A
 N/A
 N/A
 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
 47646
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brand_15_ASD_discovery_cases
  N/A
 Long-insert WGS
  Long-insert whole genome sequencing
 LUMPY, cn.MOPS, SV classifier
 
 None
 ching_10_ASD/DD/MR_discovery_cases
 
 aCGH
  Agilent 244K
 ADM-2
 Agilent Feature Extraction V9.0, Agilent CGH Analytics V3.4
 None
 coe_14_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  N/A
 
 
 None
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 girirajan_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
 kim_18_DD/ID_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS
 None
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 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
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 None
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 N/A
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 qiao_12_ASD/ID_discovery_cases
  Canadian
 Array SNP
  Affymetrix 2.7M
 
 Affymetrix ChAS v.1.1
 QMPSF
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or FISH
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 xu_16_ASD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP
  BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
 
 Affymeytrix Genotyping Console v3.0.2
 None
 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
  coe_14_ASD/DD/ID_discovery_controls
  N/A
  aCGH, solid phase hybridization
  Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
 
 
  None
  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)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  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
 
 
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brand_15_ASD_discovery_cases-case13
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 15 in this case. Duplication not previously identified by aCGH.
 
 101747916
 101770738
  22823
 GRCh38
 Duplication
 No
  brand_15_ASD_discovery_cases-case13
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 15 in this case. Duplication previously identified by aCGH (chr15:102338427-102368094; hg19).
 
 101794793
 101829306
  34514
 GRCh38
 Duplication
 No
  ching_10_ASD/DD/MR_discovery_cases-case11
 8 yrs.
 M
 Other
 Proximal & distal weakness, hypotonia. Chest-right mild Poland anomaly. Eczema. Family history: mother with history of joint hypermobility, osteoarthritis, mitral valave prolapse, severe migraines, & severe breast asymmetry (mother was source of 2p16.3 deletion, 15q26.3 duplication, and 17p11.2 duplication).
 Normal
 99701982
 100484695
  782714
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case83
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case84
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case85
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case86
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case87
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case88
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case89
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case90
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case91
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case92
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case93
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case94
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case95
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case96
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case97
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 98819248
 101981189
  3161942
 GRCh38
 Duplication
 No
  davis_09_ASD_discovery_cases-AU027505
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: micropthalmia
 
 96774822
 97639825
  865003
 Unknown
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_279524
  NA NA
 N/A
 F
 Intellectual disability
 Macular hypopigmented whorls, streaks, and patches, microcornea, pulmonic stenosis, unilateral microphthalmos
 Severe intellectual disability
 101504247
 101770451
  266205
 GRCh38
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300162
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 98701759
 99075036
  373278
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13038_473
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101683568
 101764926
  81359
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13224_2473
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101617451
 101712635
  95185
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14123_2170
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101235364
 101521262
  285899
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14123_2170
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101086688
 101181496
  94809
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14249_3730
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 100755556
 100929032
  173477
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14363_4770
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99113264
 99144944
  31681
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14363_4770
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99386235
 99423930
  37696
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16060_1571078001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99727658
 99810949
  83292
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3394_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101488263
 101611170
  122908
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3394_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101683568
 101748268
  64701
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3451_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101488263
 101608463
  120201
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3451_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101684138
 101748268
  64131
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3572_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101617451
 101712635
  95185
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4283_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101775997
 101829508
  53512
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4319_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 98898207
 99185989
  287783
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5003_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101719340
 101859834
  140495
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5057_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101488263
 101748268
  260006
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5112_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101617451
 101719340
  101890
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6350_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99196485
 99244005
  47521
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8638_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99767557
 100475400
  707844
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8659_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101288718
 101364879
  76162
 GRCh38
 Duplication
 No
  gai_11_ASD_discovery_cases-AU0980306
 
 
 Autism
 
 
 99845195
 99959160
  113966
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1321302
 
 
 Autism
 
 
 99584690
 99801559
  216870
 Unknown
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1443303
 
 
 Autism
 
 
 99857924
 99969565
  111642
 Unknown
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1544304
 
 
 Autism
 
 
 100182356
 100215583
  33228
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1547301
 
 
 Autism
 
 
 98752202
 98920035
  167834
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU027505
 
 
 Autism
 
 
 96880928
 97654327
  773400
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU082203
 
 
 Autism
 
 
 99842741
 100091023
  248283
 Unknown
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13064.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
 98099248
 98629248
  530001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-14073.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
 98639248
 99182272
  543025
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-14443.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
 98914028
 99468504
  554477
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-AU083204
 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
 101492274
 101772274
  280001
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000349
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 101666117
 101723215
  57099
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000848
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 101642152
 101843270
  201119
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001234
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 99848343
 100704243
  855901
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001262
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 101642152
 101843270
  201119
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001631
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 100222791
 101843270
  1620480
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001980
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 100455891
 101069775
  613885
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001994
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 100455891
 101069775
  613885
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002216
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 98909148
 99173160
  264013
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002257
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 100502358
 101087274
  584917
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002759
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 100447986
 101062436
  614451
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004082
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 100126374
 101843270
  1716897
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004173
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 98845807
 101843270
  2997464
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004797
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 98926805
 101843270
  2916466
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004875
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 101500777
 101843270
  342494
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005412
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 98364684
 99338342
  973659
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case1925
 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.
 
 99127913
 99134778
  6866
 Unknown
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case1964
 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.
 
 102364243
 102398631
  34389
 Unknown
 Duplication
 No
  kanduri_15_ASD_discovery_cases-case2953
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 102035267
 102305129
  269863
 Unknown
 Duplication
 No
  kanduri_15_ASD_discovery_cases-case3062
 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.
 
 100255046
 100330051
  75006
 Unknown
 Duplication
 No
  kim_18_DD/ID_discovery_cases-case19
  NA NA
 9 mos.
 M
 Developmental delay
 Hypotonia, atrial septal defect
 Mild developmental delay
 100198317
 100595854
  397538
 GRCh38
 Duplication
 No
  krumm_13_ASD_discovery_cases-case12375.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12375. SRS score of 89.
 Full-scale IQ (FSIQ) score of 94.
 101684074
 101721322
  37249
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11023.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 101805719
 101819127
  13409
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11040.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 101443555
 101721322
  277768
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11044.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 101805719
 101819127
  13409
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11118.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 101805719
 101819127
  13409
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11377.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 101805719
 101819127
  13409
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12225.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 101805719
 101819127
  13409
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12375.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 101684074
 101721322
  37249
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12418.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 101642478
 101723164
  80687
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12430.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 101805719
 101819127
  13409
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12682.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 101684074
 101712001
  27928
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13136.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 99974401
 100054054
  79654
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13654.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 101805719
 101819127
  13409
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13850.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 101805719
 101819127
  13409
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14022.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 101805719
 101819127
  13409
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14197.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 101805719
 101819127
  13409
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14443.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 98939200
 99386102
  446903
 GRCh38
 Duplication
 Yes
  lee_17_ASD/DD/ID/MCA_discovery_cases-case24
 31 yrs.
 F
 Intellectual disability
 
 Mild intellectual disability
 98640290
 98661705
  21416
 GRCh38
 Triplication
 No
  leppa_16_ASD_discovery_cases-AU027505
 N/A
 M
 ASD
 
 
 98519771
 99296795
  777025
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11040.p1
 NA
 M
 ASD
 NA
 NA
 101495318
 101733872
  238555
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case190
  NA NA
 2 yrs.
 M
 Dysmorphic features and kidney malformations
 Birth history: born at 39 weeks gestation, no reported pregnancy anomalies. Developmental milestones: no motor or language delay. Language and communication evaluation: no language disorder or absent speech. Musculoskeletal evaluation: syndactyly of the 2nd and 3rd toes. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: kidney malformations. Dysmorphic features: bulbous nasal tip. Growth parameters: macrocephaly, somatic overgrowth. Family history: negative for consanguineity, positive for familiarity, family history negative for NDDs.
 Not reported
 98142484
 98514395
  371912
 GRCh38
 Tetrasomy
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown45
  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)
 
 101504247
 101770451
  266205
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-SK0326-003
 NA
 M
 ASD
 NA
 NA
 99045248
 99603794
  558547
 GRCh38
 Duplication
 Yes
  mosca_16_DCD_discovery_cases-case110903
 N/A
 M
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 99753545
 99827641
  74097
 GRCh38
 Deletion
 No
  nava_13_ASD_discovery_cases-Fam1124Proband10793
 N/A
 F
 ASD
 Additional clinical profile info N/A
 ID
 99697477
 100412800
  715324
 GRCh38
 Duplication
 No
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-254071
 N/A
 F
 DD/ID/MCA
 Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
 
 100780197
 101810992
  1030796
 GRCh38
 Deletion
 N/A
  pinto_10_ASD_discovery_cases-case5003_4
 NA
 M
 ASD
 NA
 NA
 101719340
 101859834
  140495
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5057_4
 NA
 M
 ASD
 NA
 NA
 101488263
 101748268
  260006
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5112_4
 NA
 M
 ASD
 NA
 NA
 101617451
 101719340
  101890
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case01HI2151A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU083204; NDAR ID NDAR_INVEX263YVV)
 
 101642477
 101723166
  80690
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case01HI2326A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU082204; NDAR ID NDAR_INVHL914DRY)
 
 101684073
 101723166
  39094
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI3871A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1335302; NDAR ID NDAR_INVPL565TZ9)
 
 101642477
 101675739
  33263
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case05HI4100A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1547301; NDAR ID N/A)
 
 100262350
 100501851
  239502
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case125700
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 98730350
 98771208
  40859
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case51253
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 99826618
 100283019
  456402
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case81155
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 97414639
 97958374
  543736
 Unknown
 Duplication
 No
  qiao_12_ASD_discovery_cases-case07-203A
 NA
 NA
 ASD and/or ID
 NA
 NA
 99927964
 100093011
  165000
 Unknown
 Deletion
 Yes
  roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase15
 5 yrs.
 F
 Learning disability (developmental delay/intellectual disability)
 Dysmorphism
 
 100442683
 101077259
  634577
 GRCh38
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case15626
 NA
 NA
 ASD
 NA
 NA
 98692091
 99322865
  630774
 Unknown
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case15627
 NA
 NA
 ASD
 NA
 NA
 98692091
 99322865
  630774
 Unknown
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case19873
 NA
 NA
 ASD
 NA
 NA
 98471976
 98866487
  394511
 Unknown
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP90-062
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 101786434
 101836558
  50125
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11023.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 110; verbal IQ, 110
 101804368
 101829176
  24809
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11040.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 67; verbal IQ, 64
 101497780
 101764926
  267147
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11118.p1
 11.7
 F
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 104; verbal IQ, 77
 101810394
 101829176
  18783
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12014.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 107; verbal IQ, 133
 98138103
 98146897
  8795
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12061.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
 100157763
 100161807
  4045
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12083.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
 101798224
 101829508
  31285
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12108.p1
 13.9
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 63; verbal IQ, 74
 99845195
 99959160
  113966
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 99983029
 99990408
  7380
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12225.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 77
 101798224
 101827891
  29668
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12375.p1
 15.9
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 93; verbal IQ, 85
 101488263
 101609238
  120976
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12375.p1
 15.9
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 93; verbal IQ, 85
 101683568
 101737504
  53937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12418.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
 101568673
 101737504
  168832
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12430.p1
 9.8
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 106
 101798224
 101829176
  30953
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12682.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
 101488263
 101611170
  122908
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12682.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
 101683568
 101748268
  64701
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12744.p1
 4.3
 F
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 49
 101166509
 101175315
  8807
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13079.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 141; verbal IQ, 128
 101166509
 101175315
  8807
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13136.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
 99835169
 100057086
  221918
 GRCh38
 Duplication
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case35
 5 yrs.
 F
 Developmental delay/intellectual disability and ASD
 Developmental delay/intellectual disability, ASD, Dysmorphism
 
 100028930
 101843270
  1814341
 GRCh38
 Deletion
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case89
 9 yrs.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Dysmorphism
 
 98809576
 101616413
  2806838
 GRCh38
 Deletion
 No
  walker_13_ASD_discovery_cases-case8-3394-003
 N/A
 M
 ASD
 N/A
 N/A
 101488263
 101611170
  122908
 GRCh38
 Duplication
 No
  walker_13_ASD_discovery_cases-case8-3394-003
 N/A
 M
 ASD
 N/A
 N/A
 101683568
 101748268
  64701
 GRCh38
 Duplication
 No
  xu_16_ASD/DD/ID_discovery_cases-case21
 N/A
 N/A
 ASD
 Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
 
 98865729
 100524908
  1659180
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case486
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 101729961
 101777606
  47646
 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
  coe_14_ASD/DD/ID_discovery_controls-control2
  N/A
  N/A
  Control
  N/A
  N/A
  98819248
  101981189
  3161942
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036016640_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101617451
  101727797
  110347
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036023851_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  100157641
  100554369
  396729
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB472347_1007873749
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101617451
  101712635
  95185
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB718275_1007852921
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101816294
  101859834
  43541
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB852766_1007854725
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101617451
  101712635
  95185
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB853098_1007874651
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101488263
  101611839
  123577
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB853098_1007874651
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101683568
  101735233
  51666
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB855640_1007853300
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101654832
  101875458
  220627
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB871387_1007875840
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101488263
  101609238
  120976
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB871387_1007875840
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101683568
  101764926
  81359
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB920825_1007844457
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101711790
  101914638
  202849
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900042_900042
  N/A
  N/A
  Control
  No previous psychiatric history
 
  98953019
  99273065
  320047
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900046_900046
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99845195
  99959160
  113966
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900072_900072
  N/A
  N/A
  Control
  No previous psychiatric history
 
  98398010
  98432759
  34750
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900158_900158
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101321958
  101688471
  366514
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900214_900214
  N/A
  N/A
  Control
  No previous psychiatric history
 
  100117496
  100196313
  78818
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900248_900248
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101488263
  101609238
  120976
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900248_900248
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101683568
  101737504
  53937
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900361_900361
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101819104
  101902301
  83198
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900415_900415
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101617451
  101711790
  94340
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900659_900659
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101798224
  101829176
  30953
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901031_901031
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101798224
  101829508
  31285
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901258_901258
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101798224
  101836558
  38335
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902691_902691
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101737389
  101859834
  122446
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902724_902724
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101805827
  101888110
  82284
  GRCh38
  Duplication
  No
  girirajan_13a_ASD_discovery_controls2-control3
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  NCBI36
  Unknown
  No
  kanduri_15_ASD_discovery_controls-control_split1423
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  100204918
  100860734
  655817
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split148
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  100912913
  100953005
  40093
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11356.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11356. SRS score of 42.
 
  101684074
  101960896
  276823
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control11452.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11452. SRS score of 35.
 
  101429986
  101443660
  13675
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11040.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101645086
  101721322
  76237
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11118.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101805719
  101819127
  13409
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11356.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101684074
  101960896
  276823
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11377.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101805719
  101819127
  13409
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11452.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101429986
  101443660
  13675
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12229.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  99113590
  99386102
  272513
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12418.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101642478
  101960896
  318419
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12834.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101642478
  101714963
  72486
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12916.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101642478
  101675737
  33260
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13005.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101642478
  101714963
  72486
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13160.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101684074
  101723180
  39107
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13504.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101723078
  101819127
  96050
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13586.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101723078
  101819127
  96050
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13604.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  98480599
  98485899
  5301
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13838.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101805719
  101819127
  13409
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13850.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101805719
  101819127
  13409
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13858.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101805719
  101819127
  13409
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14022.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101805719
  101819127
  13409
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14230.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101642478
  101671586
  29109
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11040.s1
  NA
  F
  Control
  NA
  NA
  101495318
  101733872
  238555
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C45254
  N/A
  M
  Control
  NIMH Control (NIMH ID 42966)
 
  101382092
  101443660
  61569
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11023.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  101801801
  101829176
  27376
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11040.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  101488263
  101602444
  114182
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11040.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  101633607
  101764926
  131320
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11118.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  101734739
  101829176
  94438
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11154.s1
  9.9
  F
  Control (matched sibling)
  NA
  NA
  99845195
  99960656
  115462
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11356.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  101491141
  101609238
  118098
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11356.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  101683568
  101737504
  53937
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11452.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  101429544
  101502898
  73355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11679.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  101816294
  101824630
  8337
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11716.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  98080063
  98088439
  8377
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11977.s1
  13.3
  F
  Control (matched sibling)
  NA
  NA
  101491141
  101608463
  117323
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11977.s1
  13.3
  F
  Control (matched sibling)
  NA
  NA
  101683568
  101764926
  81359
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11986.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  101826646
  101875458
  48813
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12014.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  98138103
  98146897
  8795
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12061.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  100157763
  100161807
  4045
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  101920959
  101965905
  44947
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  99983029
  99990408
  7380
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12211.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  101788321
  101829176
  40856
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12225.s1
  16.4
  M
  Control (matched sibling)
  NA
  NA
  101798224
  101829508
  31285
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12229.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  98979139
  99619126
  639988
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12383.s1
  12.8
  M
  Control (matched sibling)
  NA
  NA
  100111799
  100128207
  16409
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12418.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  101568673
  101748268
  179596
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12463.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  100390351
  100479614
  89264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12592.s1
  10.1
  F
  Control (matched sibling)
  NA
  NA
  100302409
  100310827
  8419
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12916.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  101611170
  101675562
  64393
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13070.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  101824040
  101902306
  78267
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brand_15_ASD_discovery_cases-case13
 
 
 Maternal
 Simplex
 Unknown
 DNM1P47
 
 brand_15_ASD_discovery_cases-case13
 
 
 Maternal
 Simplex
 Unknown
 OR4F6,OR4F15,OR4F14P
 
 ching_10_ASD/DD/MR_discovery_cases-case11
 
 
 Maternal
 Unknown
 Unknown
 RN7SL484P,RNA5SP402,SPATA41,LYSMD4,DNM1P46,ADAMTS17,CERS3-AS1,CERS3,MEF2A
 
 coe_14_ASD/DD/ID_discovery_cases-case83
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 coe_14_ASD/DD/ID_discovery_cases-case84
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 coe_14_ASD/DD/ID_discovery_cases-case85
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 coe_14_ASD/DD/ID_discovery_cases-case86
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 coe_14_ASD/DD/ID_discovery_cases-case87
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 coe_14_ASD/DD/ID_discovery_cases-case88
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 coe_14_ASD/DD/ID_discovery_cases-case89
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 coe_14_ASD/DD/ID_discovery_cases-case90
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 coe_14_ASD/DD/ID_discovery_cases-case91
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 coe_14_ASD/DD/ID_discovery_cases-case92
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 coe_14_ASD/DD/ID_discovery_cases-case93
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 coe_14_ASD/DD/ID_discovery_cases-case94
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 coe_14_ASD/DD/ID_discovery_cases-case95
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 coe_14_ASD/DD/ID_discovery_cases-case96
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 coe_14_ASD/DD/ID_discovery_cases-case97
 
 
 Unknown
 Unknown
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
 davis_09_ASD_discovery_cases-AU027505
 
 
 Unknown
 Unknown
 Unknown
 IFG1R, DNM, TTC23, FLJ39743
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_279524
 qPCR
 
 Paternal
 
 
 SNRPCP18,LINC02348,RNU6-807P,TM2D3,DNM1P47,PCSK6,TARSL2
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300162
 
 
 Maternal
 
 
 MIR4714,LUNAR1,PGPEP1L,IGF1R
 
 engchuan_15_ASD_discovery_cases-case13038_473
 
 
 Unknown
 
 
 DNM1P47,TARSL2
 
 engchuan_15_ASD_discovery_cases-case13224_2473
 
 
 Unknown
 
 
 RNU6-807P,TM2D3,TARSL2
 
 engchuan_15_ASD_discovery_cases-case14123_2170
 
 
 Unknown
 
 
 SELENOS,SNRPA1,PCSK6-AS1,CHSY1,PCSK6
 
 engchuan_15_ASD_discovery_cases-case14123_2170
 
 
 Unknown
 
 
 CHSY1
 
 engchuan_15_ASD_discovery_cases-case14249_3730
 
 
 Unknown
 
 
 ALDH1A3,LRRK1
 
 engchuan_15_ASD_discovery_cases-case14363_4770
 
 
 Unknown
 
 
 SYNM,TTC23
 
 engchuan_15_ASD_discovery_cases-case14363_4770
 
 
 Unknown
 
 
 LINC02244,LRRC28
 
 engchuan_15_ASD_discovery_cases-case16060_1571078001
 
 
 Unknown
 
 
 RN7SL484P,LYSMD4,DNM1P46
 
 engchuan_15_ASD_discovery_cases-case3394_3
 
 
 Unknown
 
 
 SNRPCP18,PCSK6
 
 engchuan_15_ASD_discovery_cases-case3394_3
 
 
 Unknown
 
 
 TARSL2
 
 engchuan_15_ASD_discovery_cases-case3451_3
 
 
 Unknown
 
 
 SNRPCP18,PCSK6
 
 engchuan_15_ASD_discovery_cases-case3451_3
 
 
 Unknown
 
 
 TARSL2
 
 engchuan_15_ASD_discovery_cases-case3572_3
 
 
 Unknown
 
 
 RNU6-807P,TM2D3,TARSL2
 
 engchuan_15_ASD_discovery_cases-case4283_1
 
 
 Unknown
 
 
 OR4F6,OR4F15,OR4F14P,DNM1P47,GOLGA8VP
 
 engchuan_15_ASD_discovery_cases-case4319_1
 
 
 Unknown
 
 
 LUNAR1,PGPEP1L,SYNM,IGF1R,TTC23
 
 engchuan_15_ASD_discovery_cases-case5003_4
 
 
 Unknown
 
 
 RN7SL209P,OR4F6,OR4F15,OR4F14P,DNM1P47,GOLGA8VP,OR4F13P,TARSL2
 
 engchuan_15_ASD_discovery_cases-case5057_4
 
 
 Unknown
 
 
 SNRPCP18,LINC02348,RNU6-807P,TM2D3,PCSK6,TARSL2
 
 engchuan_15_ASD_discovery_cases-case5112_4
 
 
 Unknown
 
 
 RNU6-807P,TM2D3,TARSL2
 
 engchuan_15_ASD_discovery_cases-case6350_5
 
 
 Unknown
 
 
 TTC23
 
 engchuan_15_ASD_discovery_cases-case8638_201
 
 
 Unknown
 
 
 RN7SL484P,RNA5SP402,SPATA41,DNM1P46,ADAMTS17,CERS3-AS1,CERS3
 
 engchuan_15_ASD_discovery_cases-case8659_201
 
 
 Unknown
 
 
 SNRPA1,PCSK6-AS1,PCSK6
 
 gai_11_ASD_discovery_cases-AU0980306
 
 
 Inherited
 
 
 
 
 gai_11_ASD_discovery_cases-AU1321302
 
 
 Inherited
 
 
 CHSY1, SELS, SNRPA1, PCSK6
 
 gai_11_ASD_discovery_cases-AU1443303
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1544304
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1547301
 
 
 Inherited
 
 
 LASS3
 
 gai_11_ASD_replication_cases-AU027505
 
 
 Inherited
 
 
 IGF1R, LOC145814, SYNM, TTC23, LRRC28
 
 gai_11_ASD_replication_cases-AU082203
 
 
 Inherited
 
 
 PCSK6, TM2D3, TM2D3, TARSL2
 
 girirajan_13a_ASD_discovery_cases-13064.p1
 
 
 Unknown
 Simplex
 Unknown
 LINC02351,LINC01582,FAM169B
 
 girirajan_13a_ASD_discovery_cases-14073.p1
 
 
 Unknown
 Simplex
 Unknown
 IRAIN,MIR4714,LUNAR1,PGPEP1L,SYNM,IGF1R,TTC23
 
 girirajan_13a_ASD_discovery_cases-14443.p1
 aCGH (NimbleGen 135K array)
 
 De novo
 Simplex
 Possibly segregated
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,PGPEP1L,SYNM,IGF1R,TTC23,LRRC28
 
 girirajan_13a_ASD_discovery_cases-AU083204
 
 
 Unknown
 Multiplex
 Unknown
 SNRPCP18,LINC02348,RNU6-807P,TM2D3,DNM1P47,GOLGA8VP,PCSK6,TARSL2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000349
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TARSL2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000848
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,TM2D3,DNM1P47,GOLGA8VP,OR4F13P,TARSL2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001234
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,LINS1,ASB7,ADAMTS17,CERS3-AS1,CERS3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001262
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,TM2D3,DNM1P47,GOLGA8VP,OR4F13P,TARSL2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001631
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,TARSL2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001980
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RNU6-322P,PRKXP1,RNU6-181P,LINS1,ASB7,ALDH1A3,CERS3,LRRK1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001994
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-322P,PRKXP1,RNU6-181P,LINS1,ASB7,ALDH1A3,CERS3,LRRK1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002216
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LUNAR1,PGPEP1L,SYNM,IGF1R,TTC23
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002257
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RNU6-322P,PRKXP1,RNU6-181P,LINS1,ASB7,ALDH1A3,CERS3,LRRK1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002759
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-322P,PRKXP1,RNU6-181P,LINS1,ASB7,ALDH1A3,CERS3,LRRK1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004082
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,TARSL2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004173
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,MEF2A,TARSL2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004797
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,MEF2A,TARSL2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004875
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,TM2D3,DNM1P47,GOLGA8VP,PCSK6,OR4F13P,TARSL2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005412
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 IRAIN,MIR4714,LUNAR1,HSP90B2P,HNRNPA1P62,FAM169B,PGPEP1L,SYNM,IGF1R,TTC23,LRRC28
 
 kanduri_15_ASD_discovery_cases-case1925
 
 
 De novo
 Unknown
 Unknown
 Intergenic CNV: nearest genes, FAM169B(dist=70302),IGF1R(dist=57983)
 
 kanduri_15_ASD_discovery_cases-case1964
 
 
 Paternal
 Unknown
 Unknown
 OR4F13P (non-coding RNA, exonic)
 
 kanduri_15_ASD_discovery_cases-case2953
 
 
 Paternal
 Unknown
 Unknown
 TARSL2,TM2D3
 
 kanduri_15_ASD_discovery_cases-case3062
 
 
 Paternal
 Unknown
 Unknown
 LYSMD4
 
 kim_18_DD/ID_discovery_cases-case19
 
 
 Maternal
 
 
 SPATA41,RNU6-322P,PRKXP1,RNU6-181P,LINS1,ADAMTS17,CERS3-AS1,CERS3
 
 krumm_13_ASD_discovery_cases-case12375.p1
 
 
 Paternal
 Simplex
 Segregated
 TARSL2
 
 krumm_15_ASD_discovery_cases-case11023.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 OR4F6,OR4F15
 
 krumm_15_ASD_discovery_cases-case11040.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SNRPCP18,LINC02348,RNU6-807P,TM2D3,PCSK6,TARSL2
 
 krumm_15_ASD_discovery_cases-case11044.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 OR4F6,OR4F15
 
 krumm_15_ASD_discovery_cases-case11118.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 OR4F6,OR4F15
 
 krumm_15_ASD_discovery_cases-case11377.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 OR4F6,OR4F15
 
 krumm_15_ASD_discovery_cases-case12225.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 OR4F6,OR4F15
 
 krumm_15_ASD_discovery_cases-case12375.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 TARSL2
 
 krumm_15_ASD_discovery_cases-case12418.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 RNU6-807P,TM2D3,TARSL2
 
 krumm_15_ASD_discovery_cases-case12430.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 OR4F6,OR4F15
 
 krumm_15_ASD_discovery_cases-case12682.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 TARSL2
 
 krumm_15_ASD_discovery_cases-case13136.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ADAMTS17
 
 krumm_15_ASD_discovery_cases-case13654.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 OR4F6,OR4F15
 
 krumm_15_ASD_discovery_cases-case13850.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 OR4F6,OR4F15
 
 krumm_15_ASD_discovery_cases-case14022.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 OR4F6,OR4F15
 
 krumm_15_ASD_discovery_cases-case14197.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 OR4F6,OR4F15
 
 krumm_15_ASD_discovery_cases-case14443.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 LUNAR1,HSP90B2P,HNRNPA1P62,PGPEP1L,SYNM,IGF1R,TTC23,LRRC28
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case24
 
 
 Unknown
 
 
 IRAIN,IGF1R
 
 leppa_16_ASD_discovery_cases-AU027505
 
 
 Paternal
 Multiplex
 Not segregated (CNV not present in affected siblings)
 IRAIN,MIR4714,LUNAR1,HSP90B2P,HNRNPA1P62,FAM169B,PGPEP1L,SYNM,IGF1R,TTC23,LRRC28
 
 levy_11_ASD_discovery_cases-11040.p1
 
 
 Paternal
 Simplex
 Not segregated
 SNRPCP18,LINC02348,RNU6-807P,TM2D3,PCSK6,TARSL2
 
 maini_18_ASD/DD/ID_discovery_cases-case190
 
 
 Paternal
 Simplex
 Unknown
 LINC02351,FAM169B
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown45
 
 
 Paternal
 Unknown
 Unknown
 SNRPCP18,LINC02348,RNU6-807P,TM2D3,DNM1P47,PCSK6,TARSL2
 
 marshall_08_ASD_discovery_cases-SK0326-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,SYNM,TTC23,LRRC28,MEF2A
 
 mosca_16_DCD_discovery_cases-case110903
 
 
 Unknown
 Unknown
 Unknown
 RN7SL484P,DNM1P46
 
 nava_13_ASD_discovery_cases-Fam1124Proband10793
 
 
 Paternal
 Simplex
 Unknown
 RN7SL484P,RNA5SP402,SPATA41,LYSMD4,DNM1P46,ADAMTS17,CERS3-AS1,CERS3,MEF2A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-254071
 
 
 Unknown
 Unknown
 Unknown
 SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,LRRK1,CHSY1,PCSK6,TARSL2
 
 pinto_10_ASD_discovery_cases-case5003_4
 Agilent1M
 
 paternal
 NA
 NA
 RN7SL209P,OR4F6,OR4F15,OR4F14P,DNM1P47,GOLGA8VP,OR4F13P,TARSL2
 
 pinto_10_ASD_discovery_cases-case5057_4
 Agilent1M
 
 maternal
 NA
 NA
 SNRPCP18,LINC02348,RNU6-807P,TM2D3,PCSK6,TARSL2
 
 pinto_10_ASD_discovery_cases-case5112_4
 Agilent1M
 
 maternal
 NA
 NA
 RNU6-807P,TM2D3,TARSL2
 
 poultney_13_ASD_discovery_cases-case01HI2151A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RNU6-807P,TM2D3,TARSL2
 
 poultney_13_ASD_discovery_cases-case01HI2326A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TARSL2
 
 poultney_13_ASD_discovery_cases-case05HI3871A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RNU6-807P,TM2D3,TARSL2
 
 poultney_13_ASD_discovery_cases-case05HI4100A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 SPATA41,ADAMTS17,CERS3-AS1,CERS3
 
 prasad_12_ASD_discovery_cases-case125700
 
 
 Unknown
 Unknown
 Unknown
 LASS3
 
 prasad_12_ASD_discovery_cases-case51253
 
 
 Unknown
 Unknown
 Unknown
 OR4F15,TM2D3,OR4F6,OR4F4,PCSK6,GPCRLTM7,TARSL2
 
 prasad_12_ASD_discovery_cases-case81155
 
 
 Unknown
 Unknown
 Unknown
 MEF2A,SYNM,LRRC28,TTC23
 
 qiao_12_ASD_discovery_cases-case07-203A
 QMPSF
 
 Paternal
 Unknown
 Unknown
 TM2D3,TARSL2
 
 roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase15
 BACs aCGH or FISH
 
 Unknown (not maternal)
 Unknown
 Unknown
 RNU6-322P,PRKXP1,RNU6-181P,LINS1,ASB7,ALDH1A3,CERS3,LRRK1
 
 rosenfeld_10_ASD_discovery_cases-case15626
 FISH
 
 Maternal
 Unknown
 Unknown
 ADAMTS17,CERS3,LINS,ASB7,ALDH1A3,LRRK1
 
 rosenfeld_10_ASD_discovery_cases-case15627
 FISH
 
 Maternal
 Unknown
 Unknown
 ADAMTS17,CERS3,LINS,ASB7,ALDH1A3,LRRK1
 
 rosenfeld_10_ASD_discovery_cases-case19873
 FISH
 
 Maternal
 Unknown
 Unknown
 ADAMTS17,CERS3
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP90-062
 qPCR
 
 Paternal
 Unknown
 Unknown
 OR4F6,OR4F15,OR4F14P,DNM1P47
 
 sanders_11_ASD_discovery_cases-11023.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR4F6,OR4F15,OR4F14P
 
 sanders_11_ASD_discovery_cases-11040.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SNRPCP18,LINC02348,RNU6-807P,TM2D3,DNM1P47,PCSK6,TARSL2
 
 sanders_11_ASD_discovery_cases-11118.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 OR4F15,OR4F14P
 
 sanders_11_ASD_discovery_cases-12014.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12061.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ADAMTS17
 
 sanders_11_ASD_discovery_cases-12083.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 OR4F6,OR4F15,OR4F14P
 
 sanders_11_ASD_discovery_cases-12108.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ADAMTS17
 
 sanders_11_ASD_discovery_cases-12225.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR4F6,OR4F15
 
 sanders_11_ASD_discovery_cases-12375.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SNRPCP18,PCSK6
 
 sanders_11_ASD_discovery_cases-12375.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TARSL2
 
 sanders_11_ASD_discovery_cases-12418.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02348,RNU6-807P,TM2D3,TARSL2
 
 sanders_11_ASD_discovery_cases-12430.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR4F6,OR4F15,OR4F14P
 
 sanders_11_ASD_discovery_cases-12682.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SNRPCP18,PCSK6
 
 sanders_11_ASD_discovery_cases-12682.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TARSL2
 
 sanders_11_ASD_discovery_cases-12744.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13079.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13136.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ADAMTS17
 
 sansovic_17_DD/ID/ASD_discovery_cases-case35
 
 
 Maternal
 
 
 RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,TARSL2
 
 sansovic_17_DD/ID/ASD_discovery_cases-case89
 
 
 Unknown
 
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,MEF2A
 
 walker_13_ASD_discovery_cases-case8-3394-003
 
 
 Unknown
 Simplex
 Unknown
 SNRPCP18,PCSK6
 
 walker_13_ASD_discovery_cases-case8-3394-003
 
 
 Unknown
 Simplex
 Unknown
 TARSL2
 
 xu_16_ASD/DD/ID_discovery_cases-case21
 
 
 Maternal
 
 
 LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,PGPEP1L,SYNM,LYSMD4,DNM1P46,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,MEF2A
 
 yin_16_ASD_discovery_cases-case486
 
 
 Unknown
 Unknown
 Unknown
 RN7SL209P,DNM1P47,GOLGA8VP
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
coe_14_ASD/DD/ID_discovery_controls-control2
 
 
  Unknown
 
 
  LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,MEF2A,TARSL2
 
engchuan_15_ASD_discovery_controls-control110036016640_
 
 
  Unknown
 
 
  RNU6-807P,TM2D3,TARSL2
 
engchuan_15_ASD_discovery_controls-control110036023851_
 
 
  Unknown
 
 
  SPATA41,RNU6-322P,PRKXP1,ADAMTS17,CERS3-AS1,CERS3
 
engchuan_15_ASD_discovery_controls-controlB472347_1007873749
 
 
  Unknown
 
 
  RNU6-807P,TM2D3,TARSL2
 
engchuan_15_ASD_discovery_controls-controlB718275_1007852921
 
 
  Unknown
 
 
  OR4F15,OR4F14P,OR4F13P
 
engchuan_15_ASD_discovery_controls-controlB852766_1007854725
 
 
  Unknown
 
 
  RNU6-807P,TM2D3,TARSL2
 
engchuan_15_ASD_discovery_controls-controlB853098_1007874651
 
 
  Unknown
 
 
  SNRPCP18,PCSK6
 
engchuan_15_ASD_discovery_controls-controlB853098_1007874651
 
 
  Unknown
 
 
  TARSL2
 
engchuan_15_ASD_discovery_controls-controlB855640_1007853300
 
 
  Unknown
 
 
  RN7SL209P,OR4F6,OR4F15,OR4F14P,DNM1P47,GOLGA8VP,OR4F13P,TARSL2
 
engchuan_15_ASD_discovery_controls-controlB871387_1007875840
 
 
  Unknown
 
 
  SNRPCP18,PCSK6
 
engchuan_15_ASD_discovery_controls-controlB871387_1007875840
 
 
  Unknown
 
 
  DNM1P47,TARSL2
 
engchuan_15_ASD_discovery_controls-controlB920825_1007844457
 
 
  Unknown
 
 
  RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,DNM1P47,GOLGA8VP,OR4F13P,TARSL2
 
engchuan_15_ASD_discovery_controls-controlHABC_900042_900042
 
 
  Unknown
 
 
  LUNAR1,HSP90B2P,PGPEP1L,SYNM,IGF1R,TTC23,LRRC28
 
engchuan_15_ASD_discovery_controls-controlHABC_900046_900046
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900072_900072
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900158_900158
 
 
  Unknown
 
 
  SNRPCP18,LINC02348,RNU6-807P,PCSK6-AS1,TM2D3,PCSK6,TARSL2
 
engchuan_15_ASD_discovery_controls-controlHABC_900214_900214
 
 
  Unknown
 
 
  ADAMTS17
 
engchuan_15_ASD_discovery_controls-controlHABC_900248_900248
 
 
  Unknown
 
 
  SNRPCP18,PCSK6
 
engchuan_15_ASD_discovery_controls-controlHABC_900248_900248
 
 
  Unknown
 
 
  TARSL2
 
engchuan_15_ASD_discovery_controls-controlHABC_900361_900361
 
 
  Unknown
 
 
  OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F13P
 
engchuan_15_ASD_discovery_controls-controlHABC_900415_900415
 
 
  Unknown
 
 
  RNU6-807P,TM2D3,TARSL2
 
engchuan_15_ASD_discovery_controls-controlHABC_900659_900659
 
 
  Unknown
 
 
  OR4F6,OR4F15,OR4F14P
 
engchuan_15_ASD_discovery_controls-controlHABC_901031_901031
 
 
  Unknown
 
 
  OR4F6,OR4F15,OR4F14P
 
engchuan_15_ASD_discovery_controls-controlHABC_901258_901258
 
 
  Unknown
 
 
  OR4F6,OR4F15,OR4F14P
 
engchuan_15_ASD_discovery_controls-controlHABC_902691_902691
 
 
  Unknown
 
 
  RN7SL209P,OR4F6,OR4F15,OR4F14P,DNM1P47,GOLGA8VP,OR4F13P
 
engchuan_15_ASD_discovery_controls-controlHABC_902724_902724
 
 
  Unknown
 
 
  OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F13P
 
girirajan_13a_ASD_discovery_controls2-control3
 
 
  Unknown
 
 
  IGF1R
 
kanduri_15_ASD_discovery_controls-control_split1423
 
 
  Unknown
 
 
  ADAMTS17,LYSMD4,MEF2A
 
kanduri_15_ASD_discovery_controls-control_split148
 
 
  Unknown
 
 
  CERS3
 
krumm_13_ASD_discovery_controls-control11356.s1
 
 
  Maternal
  Simplex
 
  RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,DNM1P47,GOLGA8VP,OR4F13P,TARSL2
 
krumm_13_ASD_discovery_controls-control11452.s1
 
 
  Maternal
  Simplex
 
  PCSK6
 
krumm_15_ASD_discovery_controls-control11040.s1
  Illumina 1MDuo
 
  Paternal
 
 
  RNU6-807P,TM2D3,TARSL2
 
krumm_15_ASD_discovery_controls-control11118.s1
  Illumina 1M
 
  Paternal
 
 
  OR4F6,OR4F15
 
krumm_15_ASD_discovery_controls-control11356.s1
  Illumina 1M
 
  Maternal
 
 
  RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,DNM1P47,GOLGA8VP,OR4F13P,TARSL2
 
krumm_15_ASD_discovery_controls-control11377.s1
  Illumina 1M
 
  Paternal
 
 
  OR4F6,OR4F15
 
krumm_15_ASD_discovery_controls-control11452.s1
  Illumina 1M
 
  Maternal
 
 
  PCSK6
 
krumm_15_ASD_discovery_controls-control12229.s1
  Illumina 1MDuo
 
  Maternal
 
 
  HSP90B2P,HNRNPA1P62,SYNM,TTC23,LRRC28
 
krumm_15_ASD_discovery_controls-control12418.s1
  Illumina 1MDuo
 
  Maternal
 
 
  RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,TM2D3,DNM1P47,GOLGA8VP,OR4F13P,TARSL2
 
krumm_15_ASD_discovery_controls-control12834.s1
  Omni2.5-4v1
 
  Paternal
 
 
  RNU6-807P,TM2D3,TARSL2
 
krumm_15_ASD_discovery_controls-control12916.s1
  Illumina 1MDuo
 
  Maternal
 
 
  RNU6-807P,TM2D3,TARSL2
 
krumm_15_ASD_discovery_controls-control13005.s1
  Illumina 1MDuo
 
  Paternal
 
 
  RNU6-807P,TM2D3,TARSL2
 
krumm_15_ASD_discovery_controls-control13160.s1
  1M-Duov3
 
  Maternal
 
 
  TARSL2
 
krumm_15_ASD_discovery_controls-control13504.s1
  1M-Duov3
 
  Paternal
 
 
  RN7SL209P,OR4F6,OR4F15,DNM1P47,GOLGA8VP,TARSL2
 
krumm_15_ASD_discovery_controls-control13586.s1
  1M-Duov3
 
  Maternal
 
 
  RN7SL209P,OR4F6,OR4F15,DNM1P47,GOLGA8VP,TARSL2
 
krumm_15_ASD_discovery_controls-control13604.s1
  1M-Duov3
 
  Maternal
 
 
  FAM169B
 
krumm_15_ASD_discovery_controls-control13838.s1
  Omni2.5-4v1
 
  Paternal
 
 
  OR4F6,OR4F15
 
krumm_15_ASD_discovery_controls-control13850.s1
  Omni2.5-4v1
 
  Maternal
 
 
  OR4F6,OR4F15
 
krumm_15_ASD_discovery_controls-control13858.s1
  Omni2.5-4v1
 
  Maternal
 
 
  OR4F6,OR4F15
 
krumm_15_ASD_discovery_controls-control14022.s1
  Omni2.5-4v1
 
  Paternal
 
 
  OR4F6,OR4F15
 
krumm_15_ASD_discovery_controls-control14230.s1
  Omni2.5-4v1
 
  Paternal
 
 
  RNU6-807P,TM2D3,TARSL2
 
levy_11_ASD_discovery_controls-11040.s1
 
 
  Paternal
  Simplex
  NA
  SNRPCP18,LINC02348,RNU6-807P,TM2D3,PCSK6,TARSL2
 
poultney_13_ASD_discovery_controls-control05C45254
 
 
  Unknown
 
 
  PCSK6
 
sanders_11_ASD_discovery_controls-11023.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR4F6,OR4F15,OR4F14P
 
sanders_11_ASD_discovery_controls-11040.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SNRPCP18,PCSK6
 
sanders_11_ASD_discovery_controls-11040.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-807P,TM2D3,DNM1P47,TARSL2
 
sanders_11_ASD_discovery_controls-11118.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RN7SL209P,OR4F6,OR4F15,OR4F14P,DNM1P47,GOLGA8VP
 
sanders_11_ASD_discovery_controls-11154.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11356.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SNRPCP18,PCSK6
 
sanders_11_ASD_discovery_controls-11356.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TARSL2
 
sanders_11_ASD_discovery_controls-11452.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PCSK6
 
sanders_11_ASD_discovery_controls-11679.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR4F15
 
sanders_11_ASD_discovery_controls-11716.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01582,LINC02251
 
sanders_11_ASD_discovery_controls-11977.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SNRPCP18,PCSK6
 
sanders_11_ASD_discovery_controls-11977.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DNM1P47,TARSL2
 
sanders_11_ASD_discovery_controls-11986.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR4F14P,OR4F13P
 
sanders_11_ASD_discovery_controls-12014.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12061.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ADAMTS17
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,WASH3P
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ADAMTS17
 
sanders_11_ASD_discovery_controls-12211.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR4F6,OR4F15,OR4F14P,DNM1P47
 
sanders_11_ASD_discovery_controls-12225.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR4F6,OR4F15,OR4F14P
 
sanders_11_ASD_discovery_controls-12229.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,PGPEP1L,SYNM,TTC23,LRRC28,MEF2A
 
sanders_11_ASD_discovery_controls-12383.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ADAMTS17
 
sanders_11_ASD_discovery_controls-12418.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02348,RNU6-807P,TM2D3,TARSL2
 
sanders_11_ASD_discovery_controls-12463.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CERS3-AS1,CERS3
 
sanders_11_ASD_discovery_controls-12592.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ADAMTS17
 
sanders_11_ASD_discovery_controls-12916.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02348,RNU6-807P,TM2D3,TARSL2
 
sanders_11_ASD_discovery_controls-13070.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR4F14P,OR4F28P,WBP1LP5,OR4F13P
 

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