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2p22.3CNV Type: Deletion-Duplication


Largest CNV size: 771926 bp

Statistics Box:
Number of Reports: 37


Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
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
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
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.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Exonic deletion of SLC9A9 in autism with epilepsy.
Deletion
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
NA
Deletion
NA
Deletion
NA
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Duplication
NA
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 cardon_16_ASD/EP_discovery_cases
 Patient genetically evaluated at Baylor College of Medicine (BCM) and presenting with paternally-inherited exonic SLC9A9 deletion
 1
 Case diagnosed with autistic disorder (administered ADOS-Module 2 at age of 10 years, met DSM-IV criteria); case developed focal epilepsy with secondary generalization at age of 15 years.
 16 yrs.
 Male
 400
 1
 0
 1
 christian_08_ASD_discovery_cases
 Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
 397
 ASD
 
 58.4% Male
 700000
 0
 1
 1
 chung_11_ASD_discovery_cases
 Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
 1
 ASD (ADI-R and ADOS, Module 3)
 12
 Female
 10127
 1
 0
 1
 costa_21_ASD_discovery_cases
  NA NA
 ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
 144
 Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
 Range, 1-34 yrs. (mean, 7.7 yrs.)
 77.08% Male
 653978
 0
 1
 1
 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
 759419
 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
 391000
 3
 0
 3
 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
 712253
 12
 15
 27
 feliciano_19_ASD_discovery_cases
 ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
 465
 All cases diagnosed with ASD
 Range of age at enrollment, 1.544.6 years
 80.86% Male
 704253
 0
 2
 2
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 113463
 3
 0
 3
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 289039
 2
 0
 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
 753000
 0
 1
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 674082
 1
 1
 2
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 579800
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 606437
 0
 6
 6
 kushima_18_SCZ_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 2458
 Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 44 years
 55.0% Male
 30682
 1
 0
 1
 kushima_22_SCZ_discovery_cases
 Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
 3014
 Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 45 yrs.
 53.5% Male
 30683
 1
 0
 1
 leblond_12_ASD_replication_cases
 Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
 2
 1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
 NA
 100% Male
 23508
 2
 0
 2
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 700000
 0
 5
 5
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 736664
 0
 3
 3
 mahjani_22_OCD/CTD_discovery_cases
  NA NA
 Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
 1210
 993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
 Age of at least 16 yrs. (in the year 1997).
 42.15% Male
 697297
 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
 240000
 1
 0
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 118320
 3
 0
 3
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 237000
 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
 113021
 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
 686000
 0
 1
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 10446
 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
 
 
 93306
 2
 2
 4
 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)
 614709
 0
 4
 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
 96178
 5
 1
 6
 reinthaler_14_EP_discovery_cases
 Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
 281
 Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
 N/A
 58.72% Male
 576000
 0
 1
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 106731
 1
 1
 2
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 771926
 37
 19
 56
 sato_12_ASD_discovery_cases_1
 Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
 1614
 Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
 NA
 78.07% Male
 39176
 1
 0
 1
 stamouli_18_ASD/NDD_discovery_cases
  NA NA
 Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
 N/A
 N/A
 210268
 1
 0
 1
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 37743
 0
 1
 1
 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
 32304
 1
 0
 1
 yap_21_ASD_discovery_cases
 ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
 723
 Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
 Range, 2-17 yrs.
 NA
 541173
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 christian_08_ASD_discovery_controls
 Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
 372
 Controls
 
 
 700000
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 1672115
 15
 12
 27
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 0
 0
 0
 0
 guo_17_ASD_discovery_controls
 Control subjects screened for rare, large (>1 Mb) CNVs
 988
 No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
 Mean, 34.3 years
 N/A
 1008922
 0
 1
 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
 278023
 4
 1
 5
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 614707
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 542446
 0
 1
 1
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 0
 0
 0
 0
 kushima_22_ASD/BPD/SCZ_discovery_controls
 Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
 2671
 Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
 Median age, 36 yrs.
 47.8% Male
 0
 0
 0
 0
 leppa_16_ASD_discovery_controls
 Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 572
 Control
 N/A
 N/A
 700000
 0
 2
 2
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 701178
 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
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 88437
 1
 0
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 169427
 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)
 96178
 0
 0
 0
 reinthaler_14_EP_discovery_controls
 Unscreened population controls
 1512
 Control
 N/A
 49.93% Male
 576000
 0
 4
 4
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 700785
 28
 9
 37
 stamouli_18_ASD/NDD_discovery_controls
  NA NA
 Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
 N/A
 N/A
 210268
 1
 0
 1
 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
 32304
 N/A
 N/A
 N/A

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 cardon_16_ASD/EP_discovery_cases
  N/A
 aCGH
  BCM Oligo V8.1 array
 
 
 None
 christian_08_ASD_discovery_cases
  235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
 aCGH
  RPCI 19K BAC microarray
 
 
 FISH, microsatellite, qPCR
 chung_11_ASD_discovery_cases
  Scottish-Canadian
 Array SNP
  Affymetrix 6.0
 HMM
 Affymetrix Genotyping Console v.2.1, Birdseed v.2
 
 costa_21_ASD_discovery_cases
  Brazil
 aCGH
  Agilent 180K
 NA
 Agilent Genomic Workbench
 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
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 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
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 kushima_22_SCZ_discovery_cases
  Japan
 aCGH
  NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
 Fast Adaptive States Segmentation Technique 2
 BioDiscovery Nexus Copy Number v.9.0
 qRT-PCR
 leblond_12_ASD_replication_cases
  1 Canadian, 1 French
 Solid phase hybridization
  Illumina 1M SNP array
 QuantiSNP, PennCNV
 
 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
 
 
 mahjani_22_OCD/CTD_discovery_cases
  Sweden
 Solid phase hybridization
  Illumina Infinium Global Screening Array
 QuantiSNP, PennCNV, cnvPartition v.3.2.1
 CNVision, Illumina GenomeStudio v.2.0
 None
 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
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 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
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 reinthaler_14_EP_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina HumanOmniExpress BeadChip
 PennCNV
 Illumina Genome Viewer
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sato_12_ASD_discovery_cases_1
  Canadian (n=1158) and European (n=456)
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
 DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
 
 None
 stamouli_18_ASD/NDD_discovery_cases
  Swedish
 Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
 PennCNV, QuantiSNP, iPattern, iPsychCNV
 
 None
 vaags_11_ASD_discovery_cases
  Canadian
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
 
 
 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
 yap_21_ASD_discovery_cases
  Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
 Solid phase hybridization
  Illumina Global Screening Array v1 and v2
 PennCNV, iPattern
 GenomeStudio v.2.0.4
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  christian_08_ASD_discovery_controls
  262 Caucasians, 100 African-Americans
  aCGH
  RPCI 19K BAC microarray
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  guo_17_ASD_discovery_controls
  Chinese Han
  Solid phase hybridization
  Illumina 610K BeadChip
  PennCNV
 
  qPCR
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  kushima_22_ASD/BPD/SCZ_discovery_controls
  Japan
  aCGH
  NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
  Fast Adaptive States Segmentation Technique 2
  BioDiscovery Nexus Copy Number v.9.0
  qRT-PCR
  leppa_16_ASD_discovery_controls
  N/A
  Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
  PennCNV, QuantiSNP, GNOSIS
  GenomeStudio, CNVision
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  reinthaler_14_EP_discovery_controls
  German
  Solid phase hybridization
  Illumina HumanOmniExpress BeadChip
  PennCNV
  Illumina Genome Viewer
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  stamouli_18_ASD/NDD_discovery_controls
  Swedish
  Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
  PennCNV, QuantiSNP, iPattern, iPsychCNV
 
  None
  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

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  cardon_16_ASD/EP_discovery_cases-case1
 16 yrs.
 M
 ASD and epilepsy
 Case diagnosed with autistic disorder (administered ADOS-Module 2 at age of 10 years, met DSM-IV criteria). Developmental milestones: delayed language development at age of 3 years. Motor and musculoskeletal evaluation: normal tone, no symptoms of spasticity (case carries de novo deletion affecting SPG4 gene). Behavioral/psychiatric evaluation: poor socialization, poor eye contact, inflexibility in new situations, and repetitive behaviors nored at age of 3 years. Epilepsy/seizures: proband developed focal epilepsy with secondary generalization at age of 15 years and has been seizure-free for more than 1 year on zonisamide and levetiracetam regimen. EEG: left frontotemporal epileptiform activity. Brain imaging: punctate temporal hyperintensity on T2-weighted MRI. Growth parameters: obesity (BMI of 31 kg/m2) and macrocephaly. Family history: the proband's father (positive for SLC9A9 deletion) reported learning disabilities and social anxiety but no formal neurologic diagnoses; proband's mother (negative for SLC9A9 deletion) developed cryptogenic epilepsy at age of 11 years; no family consanguinity.
 
 N/A
 N/A
  400
 NCBI36
 Deletion
 No
  christian_08_ASD_discovery_cases-AU0039301
 NA
 M
 ASD
 NA
 NA
 32511494
 33211820
  700327
 GRCh38
 Duplication
 Yes
  chung_11_ASD_discovery_cases-proband
 12
 F
 ASD
 Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
 WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
 35752712
 35762838
  10127
 GRCh38
 Deletion
 No
  costa_21_ASD_discovery_cases-caseP80
  NA NA
 NA
 M
 ASD
 Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: jaundice, recurrent otitis, speech regression (simultaneous with otitis).
 
 32406405
 33060382
  653978
 GRCh38
 Duplication
 No
  davis_09_ASD_discovery_cases-AU0039303
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 32555179
 33314598
  759419
 Unknown
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_279468
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 33280031
 33671014
  390984
 GRCh38
 Deletion
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300136
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 35188940
 35282960
  94021
 GRCh38
 Deletion
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300764
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 35282901
 35427502
  144602
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13085_993
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32401549
 33106152
  704604
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13153_1703
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32401549
 33095890
  694342
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14170_2760
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35356931
 35389378
  32448
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14262_3850
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35356931
 35389378
  32448
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14272_3950
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32405366
 33103327
  697962
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14292_4130
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32405366
 33106152
  700787
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16037_1571015001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32628589
 32796213
  167625
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1763_311
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35356931
 35389378
  32448
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20053_1279001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 33962189
 34033410
  71222
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20153_1639001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35593041
 35862576
  269536
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3022_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32405366
 33106152
  700787
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3134_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35582498
 35691554
  109057
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3431_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35223251
 35326430
  103180
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3477_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35593041
 35862576
  269536
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3490_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 33974782
 34035552
  60771
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4177_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 33835037
 33869169
  34133
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4381_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32760599
 32827696
  67098
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4439_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32405366
 33106152
  700787
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4514_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32405366
 33106152
  700787
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5135_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 34562829
 34641558
  78730
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5300_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 33803023
 33896328
  93306
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6383_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32129489
 32240960
  111472
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8484_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32393898
 33106152
  712255
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8674_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32623591
 32960235
  336645
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8699_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35593041
 35862576
  269536
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8711_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 34020438
 34122913
  102476
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case9745_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35593041
 35862576
  269536
 GRCh38
 Deletion
 No
  feliciano_19_ASD_discovery_cases-caseSP0008212
 N/A
 M
 ASD
 Family history: both parents are negative for ASD and unknown for other mental health diagnoses.
 
 32406499
 33110752
  704254
 GRCh38
 Duplication
 No
  feliciano_19_ASD_discovery_cases-caseSP0029029
 N/A
 M
 ASD
 Family history: mother presents with depression.
 
 32406499
 33021207
  614709
 GRCh38
 Duplication
 No
  gai_11_ASD_replication_cases-AU004803
 
 
 Autism
 
 
 35663079
 35776541
  113463
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU023803
 
 
 Autism
 
 
 36234615
 36259319
  24705
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU023804
 
 
 Autism
 
 
 36234615
 36259319
  24705
 Unknown
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case535-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 35533514
 35570034
  36521
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case556-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 34917754
 35206794
  289041
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-11064.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
 33521429
 34271429
  750001
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-25505102977
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 32411879
 33085962
  674084
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-909110667
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 35527556
 35863672
  336117
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000870
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 32452646
 33032447
  579802
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005216
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 32452646
 33032447
  579802
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11064.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 33515136
 33599221
  84086
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11263.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32414768
 33021206
  606439
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12447.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32414768
 33021206
  606439
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12878.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32024183
 32137188
  113006
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12938.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32406498
 32817557
  411060
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13554.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32575155
 32817557
  242403
 GRCh38
 Duplication
 Yes
  kushima_18_SCZ_discovery_cases-caseSCZ1133
 48 yrs.
 M
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 32528746
 32559427
  30682
 GRCh38
 Deletion
 N/A
  kushima_22_SCZ_discovery_cases-caseSCZ1133
 NA
 NA
 Schizophrenia
 Diagnosis of schizophrenia according to DSM-5 criteria.
 
 32528745
 32559427
  30683
 GRCh38
 Deletion
 Yes
  leblond_12_ASD_replication_cases-Pintocase5237_3
 NA
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
 Below average non-verbal IQ (<1st %ile)
 34477990
 34501497
  23508
 GRCh38
 Homozygous deletion
 No
  leppa_16_ASD_discovery_cases-AU0039301
 N/A
 M
 ASD
 
 
 32408932
 33100933
  692002
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU0039303
 N/A
 F
 ASD
 
 
 32408932
 33100933
  692002
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU1164301
 N/A
 F
 ASD
 
 
 32408932
 33100933
  692002
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU1164302
 N/A
 M
 ASD
 
 
 32408932
 33100933
  692002
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU3302302
 N/A
 M
 ASD
 
 
 32408932
 33100933
  692002
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11064.p1
 NA
 M
 ASD
 NA
 NA
 33505737
 33539239
  33503
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11064.p1
 NA
 M
 ASD
 NA
 NA
 33543776
 34280439
  736664
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11263.p1
 NA
 M
 ASD
 NA
 NA
 32405718
 33106896
  701179
 GRCh38
 Duplication
 No
  mahjani_22_OCD/CTD_discovery_cases-case46
  NA NA
 NA
 F
 OCD
 Case diagnosed with obsessive compulsive disorder (OCD).
 
 32408856
 33106152
  697297
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown131
  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)
 
 35077870
 35317830
  239961
 GRCh38
 Deletion
 No
  marshall_08_ASD_discovery_cases-MM0219-003
 NA
 M
 ASD
 NA
 NA
 34018982
 34116503
  97522
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-MM0295-003
 NA
 M
 ASD
 NA
 NA
 34525478
 34643797
  118320
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-NA0083-000
 NA
 M
 ASD
 NA
 NA
 34721612
 34800737
  79126
 GRCh38
 Deletion
 Yes
  morrow_08_ASD_discovery_cases-case8001
 NA
 
 ASD
 NA
 NA
 32688000
 32925000
  237000
 Unknown
 Duplication
 No
  mosca_16_DCD_discovery_cases-case127803
 N/A
 M
 DCD
 Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis reading disorder. Sibling diagnosis ADHD.
 
 35360863
 35473883
  113021
 GRCh38
 Deletion
 No
  nava_13_ASD_discovery_cases-Fam806Proband8614
 N/A
 M
 ASD
 Additional clinical profile info N/A
 No ID
 32408501
 33094472
  685972
 GRCh38
 Duplication
 No
  nord_11_ASD_discovery_cases-225-1
 
 
 ASD
 
 
 34720898
 34731343
  10446
 Unknown
 Deletion
 No
  pinto_10_ASD_discovery_cases-case1763_311
 NA
 M
 ASD
 NA
 NA
 35356931
 35389378
  32448
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5126_4
 NA
 M
 Autism
 Anxiety disorder, delayed language development, sat at 6 m and walked at 12 m, health history uneventful except for asthma as an infant. When last evaluated at age 10 y, no obvious muscular difficulJes were noted.
 Low average IQ (5%ile)
 34544587
 34580068
  35482
 Unknown
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5135_3
 NA
 M
 ASD
 NA
 NA
 34562829
 34641558
  78730
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5300_3
 NA
 M
 ASD
 NA
 NA
 33803023
 33896328
  93306
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case00HI1481A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0039301; NDAR ID NDAR_INVGP517FDJ)
 
 32406499
 33021208
  614710
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case01HI2172A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU084203; NDAR ID N/A)
 
 33584774
 33595639
  10866
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI2885A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU1164303; NDAR ID NDAR_INVRW499TKW)
 
 32406499
 33021208
  614710
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case98HI0042A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU010703; NDAR ID N/A)
 
 33515137
 33520684
  5548
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case107433
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 33881618
 33977795
  96178
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case121851
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 35243878
 35258339
  14462
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case46488
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 34639858
 34721543
  81686
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case66104-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 34813547
 34867869
  54323
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case68785
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 36238314
 36276634
  38321
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case70764
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 32417380
 32430185
  12806
 Unknown
 Deletion
 No
  reinthaler_14_EP_discovery_cases-caseGGRE03
 N/A
 M
 Epilepsy
 Epilepsy phenotype: rolandic epilepsy.
 
 32434421
 33010257
  575837
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1169-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: yes.
 Developmental delay: yes. Intellectual disability: unknown.
 33449437
 33517217
  67781
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1304-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: yes.
 Developmental delay: yes. Intellectual disability: unknown.
 33021424
 33128154
  106731
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11002.p1
 7.7
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 111; verbal IQ, 80
 36183037
 36183843
  807
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11027.p1
 9.3
 M
 ASD
 NA
 Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86
 36183037
 36183843
  807
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11064.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 129; verbal IQ, 86
 33508487
 34280413
  771927
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11067.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 128; verbal IQ, 121
 36183037
 36183843
  807
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11074.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 75; verbal IQ, 58
 36183037
 36183843
  807
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11086.p1
 7.4
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
 35356931
 35393674
  36744
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11088.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
 36183037
 36183843
  807
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11099.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
 36183037
 36183843
  807
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11108.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
 36183037
 36183843
  807
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11129.p1
 4.7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
 35356931
 35393674
  36744
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11144.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
 36183037
 36183843
  807
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11158.p1
 10.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
 36073120
 36077718
  4599
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11212.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 118; verbal IQ, 117
 36183037
 36183843
  807
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11229.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
 36183037
 36183843
  807
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11235.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 97; verbal IQ, 105
 36183037
 36183843
  807
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11263.p1
 13.2
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 92
 32405366
 33106152
  700787
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11330.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
 36106927
 36111596
  4670
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11336.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
 36178672
 36183843
  5172
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11366.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 40; verbal IQ, 22
 34631631
 34632908
  1278
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11391.p1
 15.2
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 113
 36183037
 36183843
  807
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11393.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 37; verbal IQ, 17
 35912435
 35915298
  2864
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11407.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
 36106927
 36111596
  4670
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11437.p1
 16.6
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
 36183037
 36183843
  807
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11554.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
 36183037
 36183843
  807
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11625.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
 36106927
 36118862
  11936
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11689.p1
 13.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 87; verbal IQ, 107
 35912435
 35915298
  2864
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11780.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 112; verbal IQ, 120
 35782705
 35796918
  14214
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11916.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
 35453441
 35505194
  51754
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11942.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 50; non-verbal IQ, 44; verbal IQ, 62
 35295108
 35409445
  114338
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11995.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77
 36183037
 36183843
  807
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12052.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
 36183037
 36183843
  807
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12066.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
 36183037
 36183843
  807
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12097.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 115; verbal IQ, 145
 35593041
 35862576
  269536
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12120.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
 33970161
 34034692
  64532
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12157.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 93
 36183037
 36183843
  807
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12189.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
 35356931
 35389378
  32448
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12238.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ, 84
 34020438
 34126692
  106255
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12247.p1
 4.7
 M
 ASD
 NA
 Full-scale IQ, 109; non-verbal IQ, 111; verbal IQ, 104
 35284197
 35409445
  125249
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12310.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
 36183037
 36183843
  807
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12392.p1
 7
 M
 ASD
 NA
 Full-scale IQ, 103; non-verbal IQ, 102; verbal IQ, 105
 35912435
 35915298
  2864
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12414.p1
 4.4
 M
 ASD
 NA
 Full-scale IQ, 116; non-verbal IQ, 129; verbal IQ, 90
 35593041
 35862576
  269536
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12424.p1
 4.2
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
 35356931
 35389378
  32448
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12447.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 60; verbal IQ, 45
 32405366
 32624140
  218775
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12447.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 60; verbal IQ, 45
 32625590
 33106152
  480563
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12579.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
 35593041
 35862576
  269536
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12579.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
 33970161
 34033410
  63250
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12638.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
 35912435
 35915298
  2864
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12638.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
 35356931
 35398493
  41563
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12661.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
 35356931
 35389378
  32448
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12785.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
 36221006
 36294834
  73829
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12878.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
 32013038
 32151234
  138197
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12938.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 29; non-verbal IQ, 36; verbal IQ, 21
 32405366
 33106152
  700787
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13168.p1
 7.9
 F
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 35593041
 35870372
  277332
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13183.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
 35290022
 35630235
  340214
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 36076367
 36118862
  42496
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13304.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
 36183037
 36183843
  807
 GRCh38
 Deletion
 No
  sato_12_ASD_discovery_cases_1-family1caseIII-5
 32 yrs.
 M
 Asperger
 Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
 Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
 34472451
 34511626
  39176
 GRCh38
 Deletion
 No
  stamouli_18_ASD/NDD_discovery_cases-family38_Twin_2
  NA NA
 N/A
 N/A
 NDD
 Case is from a monozygotic twin pair from the Discordant NDD diagnostic group
 
 33734282
 33944549
  210268
 GRCh38
 Deletion
 No
  vaags_11_ASD_discovery_cases-probandF1-003
 16 yrs. 7 mos.
 M
 Asperger syndrome
 Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
 Leiter-R IQ: 119 (92nd %ile)
 34474248
 34511990
  37743
 GRCh38
 Duplication
 No
  walker_13_ASD_discovery_cases-case3-0139-000
 N/A
 M
 ASD
 N/A
 N/A
 33558014
 33590317
  32304
 GRCh38
 Deletion
 No
  yap_21_ASD_discovery_cases-case1101417
 NA
 M
 ASD
 
 
 32052584
 32593756
  541173
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036019107_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  34017824
  34122913
  105090
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036023109_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32760599
  32814623
  54025
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB141230_1007874883
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32557696
  32675263
  117568
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB178854_1007854183
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32407596
  33106152
  698557
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB301469_1007854697
  N/A
  N/A
  Control
  No previous psychiatric history
 
  31954510
  32140092
  185583
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB309618_1007853993
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35200463
  35307513
  107051
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB335252_0067942621
  N/A
  N/A
  Control
  No previous psychiatric history
 
  33133012
  33348023
  215012
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB357724_1007844568
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32405366
  33106152
  700787
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB404708_0067942623
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32405366
  33104890
  699525
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB495422_1007852884
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32111013
  32172198
  61186
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB533652_1007873177
  N/A
  N/A
  Control
  No previous psychiatric history
 
  34321726
  35991860
  1670135
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB697648_0067949262
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35295108
  35409445
  114338
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB778845_1007854001
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32639300
  32811287
  171988
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB916627_1007870356
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35593041
  35862576
  269536
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900030_900030
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35582498
  35778626
  196129
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900057_900057
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35356931
  35389378
  32448
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900250_900250
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32405366
  33110053
  704688
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900290_900290
  N/A
  N/A
  Control
  No previous psychiatric history
 
  33960268
  34028517
  68250
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900456_900456
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32405366
  33106152
  700787
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900553_900553
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35231924
  35404765
  172842
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900626_900626
  N/A
  N/A
  Control
  No previous psychiatric history
 
  34675332
  34713518
  38187
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901081_901081
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35064264
  35333279
  269016
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901117_901117
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32401549
  33106152
  704604
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901151_901151
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32405366
  33106152
  700787
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901157_901157
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35295108
  35409445
  114338
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901194_901194
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35593041
  35862576
  269536
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902491_902491
  N/A
  N/A
  Control
  No previous psychiatric history
 
  33420583
  33451373
  30791
  GRCh38
  Duplication
  No
  guo_17_ASD_discovery_controls-controlPY4121
  N/A
  N/A
  Control
  No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
 
  33800008
  34808929
  1008922
  GRCh38
  Duplication
  Yes
  kanduri_15_ASD_discovery_controls-control_split1672
  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
 
  34866625
  34933685
  67061
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split266
  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
 
  34866625
  34933685
  67061
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split341
  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
 
  35584461
  35659858
  75398
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split347
  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
 
  34551566
  34829588
  278023
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split511
  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
 
  34796055
  34948430
  152376
  Unknown
  Duplication
  No
  krumm_13_ASD_discovery_controls-control13176.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13176. SRS score of 42.
 
  32406498
  33021206
  614709
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control12938.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32406498
  32948945
  542448
  GRCh38
  Duplication
  Yes
  leppa_16_ASD_discovery_controls-AU059405
  N/A
  M
  Control
  Unaffected sibling
 
  32408932
  33100933
  692002
  GRCh38
  Duplication
  No
  leppa_16_ASD_discovery_controls-AU1791304
  N/A
  F
  Control
  Unaffected sibling
 
  32408932
  33100933
  692002
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11263.s1
  NA
  F
  Control
  NA
  NA
  32405718
  33106896
  701179
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C27500
 
 
  Control
 
 
  34756765
  34845201
  88437
  Unknown
  Deletion
 
  poultney_13_ASD_discovery_controls-control04C34745A
  N/A
  M
  Control
  NIMH Control (NIMH ID 24954)
 
  32617725
  32787151
  169427
  GRCh38
  Duplication
  No
  reinthaler_14_EP_discovery_controls-control15
  N/A
  N/A
  Control
  Control
 
  32434421
  33010257
  575837
  GRCh38
  Duplication
  No
  reinthaler_14_EP_discovery_controls-control16
  N/A
  N/A
  Control
  Control
 
  32434421
  33010257
  575837
  GRCh38
  Duplication
  No
  reinthaler_14_EP_discovery_controls-control17
  N/A
  N/A
  Control
  Control
 
  32434421
  33010257
  575837
  GRCh38
  Duplication
  No
  reinthaler_14_EP_discovery_controls-control18
  N/A
  N/A
  Control
  Control
 
  32434421
  33010257
  575837
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11002.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11010.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11033.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11037.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11067.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11106.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11135.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  35398493
  35477467
  78975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11141.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11214.s1
  17.2
  F
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11219.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11229.s1
  6.1
  M
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11250.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11263.s1
  15.9
  F
  Control (matched sibling)
  NA
  NA
  32405366
  33106152
  700787
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11291.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11327.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11374.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11378.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  33728119
  33754928
  26810
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11391.s1
  18.1
  M
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11413.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11436.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11459.s1
  14.3
  M
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11580.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11625.s1
  17.3
  M
  Control (matched sibling)
  NA
  NA
  36106927
  36118862
  11936
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11627.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  34736100
  34788784
  52685
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11942.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  35301852
  35409445
  107594
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12037.s1
  16.8
  M
  Control (matched sibling)
  NA
  NA
  36106927
  36118862
  11936
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12189.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  35356931
  35398493
  41563
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12238.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  34020438
  34122913
  102476
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12356.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  36183037
  36183843
  807
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12385.s1
  10.7
  F
  Control (matched sibling)
  NA
  NA
  36106927
  36118862
  11936
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12403.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  36106927
  36111596
  4670
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12638.s1
  17.8
  F
  Control (matched sibling)
  NA
  NA
  35912435
  35915298
  2864
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12638.s1
  17.8
  F
  Control (matched sibling)
  NA
  NA
  35356931
  35398493
  41563
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12785.s1
  16.8
  F
  Control (matched sibling)
  NA
  NA
  36221006
  36293207
  72202
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12852.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  32739186
  32760599
  21414
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12938.s1
  17.3
  M
  Control (matched sibling)
  NA
  NA
  32405366
  33106152
  700787
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13168.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  35593041
  35871399
  278359
  GRCh38
  Deletion
  No
  stamouli_18_ASD/NDD_discovery_controls-family38_Twin_1
  N/A
  N/A
  Control
  Control is from a monozygotic twin pair from the Discordant NDD diagnostic subgroup
 
  33734282
  33944549
  210268
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 cardon_16_ASD/EP_discovery_cases-case1
 
 Possibly both parents
 De novo
 Multi-generational
 Unknown
 SPG4 (exon 12)
 
 christian_08_ASD_discovery_cases-AU0039301
 FISH, microsatellite
 
 inherited
 Multiplex
 NA
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 chung_11_ASD_discovery_cases-proband
 
 
 Paternal
 Simplex
 NA
 
 
 costa_21_ASD_discovery_cases-caseP80
 
 
 Paternal
 
 
 TTC27,BIRC6,LINC00486,MIR558,LTBP1,MIR4765,BIRC6-AS2,H2ACP2
 
 davis_09_ASD_discovery_cases-AU0039303
 
 
 Unknown
 Unknown
 Unknown
 BIRC6, LTBP1
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_279468
 
 
 Paternal
 
 
 RNA5SP91,RNA5SP92,MIR4430,ATP6V0E1P3,HNRNPA1P61,FAM98A,LTBP1,RASGRP3
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300136
 
 
 Unknown
 
 
 
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300764
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13085_993
 
 
 Unknown
 
 
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 engchuan_15_ASD_discovery_cases-case13153_1703
 
 
 Unknown
 
 
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 engchuan_15_ASD_discovery_cases-case14170_2760
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14262_3850
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14272_3950
 
 
 Unknown
 
 
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 engchuan_15_ASD_discovery_cases-case14292_4130
 
 
 Unknown
 
 
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 engchuan_15_ASD_discovery_cases-case16037_1571015001
 
 
 Unknown
 
 
 MIR4765,TTC27
 
 engchuan_15_ASD_discovery_cases-case1763_311
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20053_1279001
 
 
 Unknown
 
 
 LINC01320
 
 engchuan_15_ASD_discovery_cases-case20153_1639001
 
 
 Unknown
 
 
 MRPL50P1
 
 engchuan_15_ASD_discovery_cases-case3022_4
 
 
 Unknown
 
 
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 engchuan_15_ASD_discovery_cases-case3134_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3431_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3477_3
 
 
 Unknown
 
 
 MRPL50P1
 
 engchuan_15_ASD_discovery_cases-case3490_3
 
 
 Unknown
 
 
 LINC01320
 
 engchuan_15_ASD_discovery_cases-case4177_1
 
 
 Unknown
 
 
 SLC25A5P2,LINC01320
 
 engchuan_15_ASD_discovery_cases-case4381_1
 
 
 Unknown
 
 
 TTC27,LINC00486
 
 engchuan_15_ASD_discovery_cases-case4439_1
 
 
 Unknown
 
 
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 engchuan_15_ASD_discovery_cases-case4514_1
 
 
 Unknown
 
 
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 engchuan_15_ASD_discovery_cases-case5135_3
 
 
 Unknown
 
 
 LINC01320
 
 engchuan_15_ASD_discovery_cases-case5300_3
 
 
 Unknown
 
 
 SLC25A5P2,LINC01320
 
 engchuan_15_ASD_discovery_cases-case6383_5
 
 
 Unknown
 
 
 DDX50P1,RNU6-647P,SLC30A6,SPAST,NLRC4
 
 engchuan_15_ASD_discovery_cases-case8484_201
 
 
 Unknown
 
 
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 engchuan_15_ASD_discovery_cases-case8674_201
 
 
 Unknown
 
 
 MIR4765,TTC27,LINC00486,LTBP1
 
 engchuan_15_ASD_discovery_cases-case8699_201
 
 
 Unknown
 
 
 MRPL50P1
 
 engchuan_15_ASD_discovery_cases-case8711_201
 
 
 Unknown
 
 
 LINC01318,LINC01320
 
 engchuan_15_ASD_discovery_cases-case9745_201
 
 
 Unknown
 
 
 MRPL50P1
 
 feliciano_19_ASD_discovery_cases-caseSP0008212
 
 
 Maternal
 Simplex
 
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 null
 feliciano_19_ASD_discovery_cases-caseSP0029029
 
 
 Maternal
 
 
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 null
 gai_11_ASD_replication_cases-AU004803
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU023803
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU023804
 
 
 Inherited
 
 
 0 genes
 
 gazzellone_14_ASD_discovery_cases-case535-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 gazzellone_14_ASD_discovery_cases-case556-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13a_ASD_discovery_cases-11064.p1
 
 
 Unknown
 Simplex
 Unknown
 ATP6V0E1P3,HNRNPA1P61,MYADML,SLC25A5P2,LINC01318,FAM98A,LINC01320,RASGRP3
 
 girirajan_13b_ASD_discovery_cases-25505102977
 
 
 Unknown
 Unknown
 Unknown
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 girirajan_13b_ASD_discovery_cases-909110667
 
 
 Unknown
 Unknown
 Unknown
 MRPL50P1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000870
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005216
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 krumm_15_ASD_discovery_cases-case11064.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 FAM98A,RASGRP3
 
 krumm_15_ASD_discovery_cases-case11263.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 krumm_15_ASD_discovery_cases-case12447.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 krumm_15_ASD_discovery_cases-case12878.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 DPY30,SPAST
 
 krumm_15_ASD_discovery_cases-case12938.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MIR558,MIR4765,BIRC6-AS2,TTC27,BIRC6
 
 krumm_15_ASD_discovery_cases-case13554.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 MIR4765,TTC27,BIRC6
 
 kushima_18_SCZ_discovery_cases-caseSCZ1133
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Unknown
 Unknown
 MIR558,BIRC6-AS2,BIRC6
 
 kushima_22_SCZ_discovery_cases-caseSCZ1133
 qRT-PCR
 
 Unknown
 
 
 BIRC6,MIR558,BIRC6-AS2
 
 leblond_12_ASD_replication_cases-Pintocase5237_3
 
 
 Both parents
 
 
 LINC01320
 
 leppa_16_ASD_discovery_cases-AU0039301
 
 
 Maternal
 Simplex
 Unknown
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 leppa_16_ASD_discovery_cases-AU0039303
 
 
 Maternal
 Simplex
 Unknown
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 leppa_16_ASD_discovery_cases-AU1164301
 
 
 Paternal
 Simplex
 Unknown
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 leppa_16_ASD_discovery_cases-AU1164302
 
 
 Paternal
 Simplex
 Unknown
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 leppa_16_ASD_discovery_cases-AU3302302
 
 
 Maternal
 Multiplex
 Not segregated (CNV not present in affected sibling)
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 levy_11_ASD_discovery_cases-11064.p1
 
 
 Maternal
 Simplex
 Segregated
 RASGRP3
 
 levy_11_ASD_discovery_cases-11064.p1
 
 
 Maternal
 Simplex
 Segregated
 ATP6V0E1P3,HNRNPA1P61,MYADML,SLC25A5P2,LINC01318,FAM98A,LINC01320,RASGRP3
 
 levy_11_ASD_discovery_cases-11263.p1
 
 
 Paternal
 Simplex
 Not segregated
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 mahjani_22_OCD/CTD_discovery_cases-case46
 
 
 Unknown
 
 
 TTC27,BIRC6,LINC00486,MIR558,LTBP1,MIR4765,BIRC6-AS2,H2ACP2
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown131
 
 
 Paternal
 Unknown
 Unknown
 
 
 marshall_08_ASD_discovery_cases-MM0219-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 LINC01318,LINC01320
 
 marshall_08_ASD_discovery_cases-MM0295-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 LINC01320
 
 marshall_08_ASD_discovery_cases-NA0083-000
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 LINC01320
 
 morrow_08_ASD_discovery_cases-case8001
 
 
 Maternal
 NA
 NA
 BIRC6
 
 mosca_16_DCD_discovery_cases-case127803
 
 
 Unknown
 Multi-generational
 Unknown
 MIR548AD,RNU6-1117P
 
 nava_13_ASD_discovery_cases-Fam806Proband8614
 
 
 Unknown
 Simplex
 Unknown
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 nord_11_ASD_discovery_cases-225-1
 
 
 Paternal
 
 
 0 genes
 
 pinto_10_ASD_discovery_cases-case1763_311
 Illumina550
 
 maternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5126_4
 Agilent1M
 
 Both parents
 Multiplex
 NA
 0 genes
 
 pinto_10_ASD_discovery_cases-case5135_3
 Agilent1M
 
 maternal
 NA
 NA
 LINC01320
 
 pinto_10_ASD_discovery_cases-case5300_3
 Agilent1M-Paternal
 
 paternal
 NA
 NA
 SLC25A5P2,LINC01320
 
 poultney_13_ASD_discovery_cases-case00HI1481A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 poultney_13_ASD_discovery_cases-case01HI2172A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 FAM98A
 
 poultney_13_ASD_discovery_cases-case04HI2885A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 poultney_13_ASD_discovery_cases-case98HI0042A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RASGRP3
 
 prasad_12_ASD_discovery_cases-case107433
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case121851
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case46488
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case66104-L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case68785
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case70764
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 reinthaler_14_EP_discovery_cases-caseGGRE03
 
 
 Unknown
 Unknown
 Unknown
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1169-0
 qPCR
 
 Paternal
 Unknown
 Unknown
 RASGRP3
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1304-0
 qPCR
 
 Paternal
 Unknown
 Unknown
 LTBP1
 
 sanders_11_ASD_discovery_cases-11002.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11027.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11064.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 ATP6V0E1P3,HNRNPA1P61,MYADML,SLC25A5P2,LINC01318,FAM98A,LINC01320,RASGRP3
 
 sanders_11_ASD_discovery_cases-11067.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11074.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11086.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11088.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11099.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11108.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11129.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11144.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11158.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11212.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11229.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11235.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11263.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 sanders_11_ASD_discovery_cases-11330.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11336.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11366.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 LINC01320
 
 sanders_11_ASD_discovery_cases-11391.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11393.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11407.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11437.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11554.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11625.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11689.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11780.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11916.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MIR548AD,RNU6-1117P
 
 sanders_11_ASD_discovery_cases-11942.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11995.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12052.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12066.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12097.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MRPL50P1
 
 sanders_11_ASD_discovery_cases-12120.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01320
 
 sanders_11_ASD_discovery_cases-12157.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12189.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12238.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01318,LINC01320
 
 sanders_11_ASD_discovery_cases-12247.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12310.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12392.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12414.p1
 
 
 Paternal
 Simplex (trio)
 NA
 MRPL50P1
 
 sanders_11_ASD_discovery_cases-12424.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12447.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MIR558,BIRC6-AS2,BIRC6
 
 sanders_11_ASD_discovery_cases-12447.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MIR4765,TTC27,LINC00486,LTBP1
 
 sanders_11_ASD_discovery_cases-12579.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MRPL50P1
 
 sanders_11_ASD_discovery_cases-12579.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01320
 
 sanders_11_ASD_discovery_cases-12638.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12638.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12661.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12785.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12878.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DPY30,SPAST
 
 sanders_11_ASD_discovery_cases-12938.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
 sanders_11_ASD_discovery_cases-13168.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MRPL50P1
 
 sanders_11_ASD_discovery_cases-13183.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MIR548AD,RNU6-1117P
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13304.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sato_12_ASD_discovery_cases_1-family1caseIII-5
 
 Possibly maternal
 Unknown
 Simplex for ASD; multiplex for anxiety disorder
 Unknown
 LINC01320
 
 stamouli_18_ASD/NDD_discovery_cases-family38_Twin_2
 
 
 Paternal
 Simplex
 Not segregated (CNV also present in unaffected twin)
 SLC25A5P2,LINC01320
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 LINC01320
 
 walker_13_ASD_discovery_cases-case3-0139-000
 
 
 Unknown
 Simplex
 Unknown
 FAM98A,RASGRP3
 
 yap_21_ASD_discovery_cases-case1101417
 
 
 Unknown
 
 
 SLC30A6,BIRC6,NLRC4,YIPF4,DDX50P1,MIR558,BIRC6-AS1,BIRC6-AS2,SPAST,RNU6-647P,SLC30A6-DT
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019107_
 
 
  Unknown
 
 
  LINC01318,LINC01320
 
engchuan_15_ASD_discovery_controls-control110036023109_
 
 
  Unknown
 
 
  TTC27
 
engchuan_15_ASD_discovery_controls-controlB141230_1007874883
 
 
  Unknown
 
 
  MIR4765,BIRC6-AS2,TTC27,BIRC6
 
engchuan_15_ASD_discovery_controls-controlB178854_1007854183
 
 
  Unknown
 
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
engchuan_15_ASD_discovery_controls-controlB301469_1007854697
 
 
  Unknown
 
 
  MEMO1,DPY30,SPAST
 
engchuan_15_ASD_discovery_controls-controlB309618_1007853993
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB335252_0067942621
 
 
  Unknown
 
 
  RNA5SP91,RNA5SP92,LTBP1
 
engchuan_15_ASD_discovery_controls-controlB357724_1007844568
 
 
  Unknown
 
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
engchuan_15_ASD_discovery_controls-controlB404708_0067942623
 
 
  Unknown
 
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
engchuan_15_ASD_discovery_controls-controlB495422_1007852884
 
 
  Unknown
 
 
  SLC30A6,SPAST
 
engchuan_15_ASD_discovery_controls-controlB533652_1007873177
 
 
  Unknown
 
 
  RN7SL602P,MIR548AD,RNU6-1117P,MRPL50P1,LINC01320
 
engchuan_15_ASD_discovery_controls-controlB697648_0067949262
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB778845_1007854001
 
 
  Unknown
 
 
  TTC27
 
engchuan_15_ASD_discovery_controls-controlB916627_1007870356
 
 
  Unknown
 
 
  MRPL50P1
 
engchuan_15_ASD_discovery_controls-controlHABC_900030_900030
 
 
  Unknown
 
 
  MRPL50P1
 
engchuan_15_ASD_discovery_controls-controlHABC_900057_900057
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900250_900250
 
 
  Unknown
 
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
engchuan_15_ASD_discovery_controls-controlHABC_900290_900290
 
 
  Unknown
 
 
  LINC01320
 
engchuan_15_ASD_discovery_controls-controlHABC_900456_900456
 
 
  Unknown
 
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
engchuan_15_ASD_discovery_controls-controlHABC_900553_900553
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900626_900626
 
 
  Unknown
 
 
  LINC01320
 
engchuan_15_ASD_discovery_controls-controlHABC_901081_901081
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901117_901117
 
 
  Unknown
 
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
engchuan_15_ASD_discovery_controls-controlHABC_901151_901151
 
 
  Unknown
 
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
engchuan_15_ASD_discovery_controls-controlHABC_901157_901157
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901194_901194
 
 
  Unknown
 
 
  MRPL50P1
 
engchuan_15_ASD_discovery_controls-controlHABC_902491_902491
 
 
  Unknown
 
 
  RASGRP3
 
guo_17_ASD_discovery_controls-controlPY4121
  qPCR
 
  Unknown
 
 
  SLC25A5P2,LINC01318,LINC01320
 
kanduri_15_ASD_discovery_controls-control_split1672
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MYADML(dist=913341),LOC100288911(dist=1648207)
 
kanduri_15_ASD_discovery_controls-control_split266
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MYADML(dist=913341),LOC100288911(dist=1648207)
 
kanduri_15_ASD_discovery_controls-control_split341
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MYADML(dist=1631177),LOC100288911(dist=922034)
 
kanduri_15_ASD_discovery_controls-control_split347
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MYADML(dist=598282),LOC100288911(dist=1752304)
 
kanduri_15_ASD_discovery_controls-control_split511
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MYADML(dist=842771),LOC100288911(dist=1633462)
 
krumm_13_ASD_discovery_controls-control13176.s1
 
 
  Maternal
  Simplex
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
krumm_15_ASD_discovery_controls-control12938.s1
  Illumina 1MDuo
 
  Paternal
 
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
leppa_16_ASD_discovery_controls-AU059405
 
 
  Maternal
  Simplex
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
leppa_16_ASD_discovery_controls-AU1791304
 
 
  Paternal
  Multiplex
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
levy_11_ASD_discovery_controls-11263.s1
 
 
  Paternal
  Simplex
  NA
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
nord_11_ASD_discovery_controls-04C27500
 
 
 
 
 
  0 genes
 
poultney_13_ASD_discovery_controls-control04C34745A
 
 
  Unknown
 
 
  MIR4765,TTC27,BIRC6
 
reinthaler_14_EP_discovery_controls-control15
 
 
  Unknown
 
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
reinthaler_14_EP_discovery_controls-control16
 
 
  Unknown
 
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
reinthaler_14_EP_discovery_controls-control17
 
 
  Unknown
 
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
reinthaler_14_EP_discovery_controls-control18
 
 
  Unknown
 
 
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
sanders_11_ASD_discovery_controls-11002.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11010.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11037.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11067.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11106.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11135.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR548AD,RNU6-1117P
 
sanders_11_ASD_discovery_controls-11141.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11214.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11219.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11229.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11250.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11263.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
sanders_11_ASD_discovery_controls-11291.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11327.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11374.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11378.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MYADML,LINC01320
 
sanders_11_ASD_discovery_controls-11391.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11413.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11436.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11459.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11580.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11625.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11627.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01320
 
sanders_11_ASD_discovery_controls-11942.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12037.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12189.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12238.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01318,LINC01320
 
sanders_11_ASD_discovery_controls-12356.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12385.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12403.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12638.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12638.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12785.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12852.s1
 
 
  Both parents
  Simplex (quad)
  NA
  TTC27
 
sanders_11_ASD_discovery_controls-12938.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR558,MIR4765,BIRC6-AS2,TTC27,LINC00486,LTBP1,BIRC6
 
sanders_11_ASD_discovery_controls-13168.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MRPL50P1
 
stamouli_18_ASD/NDD_discovery_controls-family38_Twin_1
 
 
  Paternal
  Simplex
 
  SLC25A5P2,LINC01320
 

No Animal Model Data Available
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