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22q11.23CNV Type: Deletion-Duplication


Largest CNV size: 816604 bp

Statistics Box:
Number of Reports: 31



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
De novo rates and selection of large copy number variation.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Distal 22q11.2 Microduplication: Case Report and Review of the Literature.
Duplication
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion-Duplication
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion-Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
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-Duplication
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Deletion
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Identification of rare copy number variants in high burden schizophrenia families.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
NA
Deletion
NA
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 3707
 0
 2
 2
 chilian_13_DD/ID_discovery_cases
 Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
 1
 Severe DD/ID, language impairment, behavioral abnormalities
 5 yrs.
 Male
 42295
 2
 0
 2
 dabell_13_ASD/DD/ID_discovery_cases
 Prenatal and postnatal patients tested between Feb. 2008 and June 2012 by Signature Genomics Laboratories using aCGH platforms providing coverage over NRXN1
 30065
 Most common indications for study: intellectual disability (ID), developmental delay (DD), and/or multiple congenital anomalies
 N/A
 N/A
 1240740
 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
 477786
 3
 1
 4
 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
 681893
 2
 3
 5
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 233841
 0
 1
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 1171000
 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
 370104
 0
 3
 3
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 1348621
 0
 1
 1
 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
 1491764
 1
 12
 13
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 535984
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 1070467
 10
 14
 24
 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
 1336322
 0
 2
 2
 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
 52722
 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
 1331000
 0
 2
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 627064
 0
 2
 2
 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
 244000
 0
 2
 2
 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)
 
 
 251000
 7
 2
 9
 munnich_19_ASD_discovery_cases
 Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
 502
 Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
 < 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
 69.92% Male
 1200000
 0
 1
 1
 newbury_12_ASD/CAS_discovery_cases
 Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
 1
 Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
 14 yrs.
 Male
 47394
 1
 0
 1
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
 Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
 6
 Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
 Range, 8-19 yrs.
 83.33% Male
 42295
 1
 0
 1
 pinchefsky_17_DD_discovery_cases
 3-year-old female born to healthy non-consanguineous parents with two healthy developmentally normal siblings
 1
 Case presented with global developmental delay, autistic features, and sensorineural hearing loss
 3 years
 Female
 1241000
 0
 1
 1
 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
 7154
 1
 2
 3
 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
 816604
 1
 4
 5
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 283000
 0
 1
 1
 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
 47747
 0
 1
 1
 sato_12_ASD_discovery_cases_2
 Three additional affected males from four-generation family with ASD/BAP
 3
 Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
 Range, 5 yrs. 8 mos.-95 yrs.
 100% Male
 47747
 1
 0
 1
 schuch_19_ASD_discovery_cases
  NA NA
 Childen of European descent diagnosed with idiopathic ASD
 40
 Cases diagnosed with ASD according to DSM-IV criteria: 55% with autistic disorder, 45% with PDD-NOS, 5% with Asperger syndrome.
 Mean, 7.83 2.95 yrs.
 90.00% Male
 178000
 1
 0
 1
 shen_10b_ASD_discovery_cases
 Father and son from a three-generation Chinese family with ASD and language delay.
 2
 Diagnosis of ASD based upon DSM-IV criteria.
 Range, 12-41 yrs.
 100% Male
 238125
 2
 1
 3
 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
 73208
 2
 0
 2
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 58194
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 47755
 4
 1
 5

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 409108
 3
 1
 4
 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
 1164644
 1
 0
 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
 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
 2989
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 1034970
 6
 11
 17
 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
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 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)
 284691
 0
 3
 3
 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)
 7154
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 70626
 2
 2
 4
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 47755
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 aCGH (Agilent 4x180K or 8x60K)
 chilian_13_DD/ID_discovery_cases
  Germany
 aCGH
  Agilent Human Genome CGH Microarray 244A
 
 
 None
 dabell_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  Signature Genomics SignatureChip OS v1.0 (105K), v2.0 (135K), or v3.0 (135K) (manufactured by Agilent) or BACs aCGH
 
 
 None
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 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
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 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
 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
 
 
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 munnich_19_ASD_discovery_cases
  France
 aCGH, karyotyping
  Agilent 60K
 
 
 FISH
 newbury_12_ASD/CAS_discovery_cases
  European (Caucasian)
 aCGH
  Agilent 244K
 
 Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
 None
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
  Italy
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Cytogenomic Software v2.7
 None
 pinchefsky_17_DD_discovery_cases
  Moroccan
 aCGH
  NimbleGen CGX-12
 
 
 FISH
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None
 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
 sato_12_ASD_discovery_cases_2
  Canadian
 aCGH
  Agilent SurePrint G3 Human CGH 1x1M
 DNA Analytics, CBS/DNAcopy
 
 None
 schuch_19_ASD_discovery_cases
  European
 aCGH
  Agilent 8x60K
 ADM-2
 Agilent Feature Extraction v.9.5.1, Agilent Cytogenomics v.2.7.8.0
 None
 shen_10b_ASD_discovery_cases
  Chinese
 aCGH
  Agilent 244K
 
 DNA Analytics
 
 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
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  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
 
  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
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  celestino-soper_11_ASD_discovery_cases-11417
 NA
 M
 ASD
 NA
 NA
 272187
 275894
  3708
 GRCh38
 Duplication
 Yes
  celestino-soper_11_ASD_discovery_cases-11417
 NA
 M
 ASD
 NA
 NA
 270488
 271197
  710
 GRCh38
 Duplication
 Yes
  chilian_13_DD/ID_discovery_cases-case1
 5 yrs.
 M
 Developmental delay/intellectual disability
 Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
 Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
 242134
 284429
  42296
 GRCh38
 Homozygous deletion
 No
  dabell_13_ASD/DD/ID_discovery_cases-patient36
 2 yrs.
 F
 Developmental delay
 Indication for study: developmental delay, short stature.
 Developmental delay
 23408742
 24595702
  1186961
 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).
 
 23918244
 24396030
  477786
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU008404
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: trigonocephaly
 
 23967181
 24255991
  288810
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU021903
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: Sotos syndrome
 
 23967181
 24287542
  320361
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU059003
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: syndactyly
 
 23967181
 24260853
  293672
 Unknown
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14242_3660
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24013510
 24597400
  583891
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14242_3660
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23323169
 23925933
  602765
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14291_4120
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23837315
 23918556
  81242
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5551_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23579240
 23638681
  59442
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6275_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23438888
 23509514
  70627
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1284301
 
 
 Autism
 
 
 23621076
 23854916
  233841
 Unknown
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13804.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
 23487813
 24604033
  1116221
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-20207108119
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 25238334
 25608438
  370105
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-21908109957
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 23778316
 23858140
  79825
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-28305103475
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 23778316
 23858140
  79825
 GRCh38
 Duplication
 No
  itsara_10_ASD_discovery_cases-HI0172
 NA
 NA
 Autism
 NA
 NA
 23305822
 24600663
  1294842
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000841
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 25299502
 25507576
  208075
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001144
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 24884631
 25299561
  414931
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001589
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23285152
 24723136
  1437985
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001595
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23354221
 24541945
  1187725
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001730
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23247480
 23670363
  422884
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002665
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23369950
 24669609
  1299660
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003979
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23377984
 24563859
  1185876
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004014
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23377784
 24564000
  1186217
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004489
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23377984
 24563859
  1185876
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004568
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23377984
 24669609
  1291626
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004774
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23414627
 24563859
  1149233
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004789
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23338443
 24577664
  1239222
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004881
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23377984
 24669609
  1291626
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case11090.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11090. SRS score of 83.
 Full-scale IQ (FSIQ) score of 56.
 23692030
 23956032
  264003
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case11090.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11090. SRS score of 83.
 Full-scale IQ (FSIQ) score of 56.
 24035513
 24571977
  536465
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11031.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 207901
 273688
  65788
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11090.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 24035513
 24571977
  536465
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11285.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 267785
 304135
  36351
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11297.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 219236
 273688
  54453
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11301.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 267785
 304135
  36351
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11329.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 219236
 304135
  84900
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11394.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 219236
 273688
  54453
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11512.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 219236
 273688
  54453
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12231.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 219236
 273688
  54453
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12361.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 219236
 304135
  84900
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12367.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 23692030
 23696688
  4659
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12497.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 219236
 304135
  84900
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12669.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 219236
 273688
  54453
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12722.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 219236
 273688
  54453
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13136.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 219236
 273688
  54453
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13150.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 219236
 273688
  54453
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13226.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 219236
 273688
  54453
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13244.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 219236
 273688
  54453
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13336.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 23692030
 23696688
  4659
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13377.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 207901
 273688
  65788
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13536.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 219236
 304135
  84900
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13804.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 23573265
 24589951
  1016687
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14188.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 219236
 273688
  54453
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14215.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 219236
 273688
  54453
 GRCh38
 Duplication
 Yes
  kushima_18_SCZ_discovery_cases-caseSCZ0011
 21 yrs.
 F
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 16 years of age (core symptoms include auditory hallucinations, persecutory delusions, repeated suicide attempts, psychomotor agitation). Congenital and developmental phenotypes: premature birth. Family history: positive for bipolar disorder (BPD).
 IQ > 70
 23317839
 24597843
  1280005
 GRCh38
 Duplication
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ0134
 32 yrs.
 M
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 31 years of age (core symptoms include cenesthetic hallucinations, auditory hallucinations). Family history: positive.
 IQ > 70
 23317839
 24654160
  1336322
 GRCh38
 Duplication
 N/A
  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)
 229123
 281844
  52722
 GRCh38
 Homozygous deletion
 No
  leppa_16_ASD_discovery_cases-AU004104
 N/A
 N/A
 ASD
 SRS total score 108
 Raven's non-verbal IQ 38
 23323169
 24600663
  1277495
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU1202201
 N/A
 M
 ASD
 
 
 23322813
 24601033
  1278221
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11090.p1
 NA
 M
 ASD
 NA
 NA
 23351601
 23928110
  576510
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11090.p1
 NA
 M
 ASD
 NA
 NA
 24013510
 24632304
  618795
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case156
  NA NA
 6 yrs.
 M
 Intellectual disability
 Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: no motor or language delay. Language and communication evaluation: language disorder. Musculoskeletal evaluation: clinodactyly of the 4th toes, skeletal anomalies. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no. Additional medical history: skin anomalies. Dysmorphic features: no reported dysmorphic features. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
 Mild intellectual disability
 23780141
 23826694
  46554
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case213
  NA NA
 5 yrs.
 F
 Developmental delay and intellectual disability
 Birth history: born at 41 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay, language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: cerebral malformations, neurological anomalies, skin softness/joint laxity. Dysmorphic features: upslanting palpebral fissures, large mouth, widely spaced teeth, cupid bow's in upper lip, anterior creases in earlobes. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
 Mild intellectual disability
 24013510
 24161157
  147648
 GRCh38
 Duplication
 No
  morrow_08_ASD_discovery_cases-case1602
 NA
 
 ASD
 NA
 NA
 24045000
 24240000
  195900
 Unknown
 Deletion
 No
  morrow_08_ASD_discovery_cases-case1603
 NA
 
 ASD
 NA
 NA
 23993000
 24244000
  251000
 Unknown
 Deletion
 No
  morrow_08_ASD_discovery_cases-case1604
 NA
 
 ASD
 NA
 NA
 24156000
 24234000
  78500
 Unknown
 Deletion
 No
  morrow_08_ASD_discovery_cases-case3604
 NA
 
 ASD
 NA
 NA
 23415000
 23431000
  16400
 Unknown
 Deletion
 No
  morrow_08_ASD_discovery_cases-case3605
 NA
 
 ASD
 NA
 NA
 23389000
 23431000
  41600
 Unknown
 Deletion
 No
  morrow_08_ASD_discovery_cases-case6501
 NA
 
 ASD
 NA
 NA
 23993000
 24240000
  247000
 Unknown
 Duplication
 No
  morrow_08_ASD_discovery_cases-case7001
 NA
 
 ASD
 NA
 NA
 22246000
 22304000
  58000
 Unknown
 Duplication
 No
  morrow_08_ASD_discovery_cases-case7901
 NA
 
 ASD
 NA
 NA
 24007000
 24240000
  233100
 Unknown
 Deletion
 No
  morrow_08_ASD_discovery_cases-case8501
 NA
 
 ASD
 NA
 NA
 23993000
 24240000
  246900
 Unknown
 Deletion
 No
  munnich_19_ASD_discovery_cases-case32
 N/A
 M
 ASD
 Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
 
 23397250
 24592488
  1195239
 GRCh38
 Duplication
 Yes
  newbury_12_ASD/CAS_discovery_cases-case1
 14 yrs.
 M
 PDD-NOS and CAS
 Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
 
 242134
 289528
  47395
 GRCh38
 Deletion
 No
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
 N/A
 M
 Developmental delay
 Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.
 Developmental delay (TIQ score of 54)
 242134
 284429
  42296
 GRCh38
 Deletion
 No
  pinchefsky_17_DD_discovery_cases-case1
 3 yrs.
 F
 Developmental delay and autistic features
 Birth/neonatal history: product of an unremarkable pregnancy; delivery was spontaneous, vaginal, and uncomplicated; birth weight of 3955 g (98th %ile), height of 52 cm (90th %ile), and head circumference of 36 cm (97th %ile). Developmental milestones: global developmental delay; walked at appropriate age of 12 months; severe receptive and expressive language delay, with some signs of language regression noted at 30 months (acquired approximately 10 words between ages of 12 and 20 months, which were subsequently lost); significant delay in gross and fine motor development noted on formal developmental assessment at 22 months of age (1st %ile for age using Peabody Developmental Motor Scales); could not go down stairs, jump, or kick a ball at 39 months. Language and communication evaluation: absent speech (currently no word output, but can understand simple instruction). Motor and musculoskeletal evaluation: increased tone in lower extremities with tight heel cords; toe walking; brisk deep tendon reflexes; wore articulated ankle-foot orthoses. Behavioral/psychiatric evaluation: autistic features (inconsistent eye contact, does not point to her wants, prefers to play on her own but will interact with others if prompted, does not engage in pretend play); hyperactivity; difficult behavior; occasional tantrums; bruxism. Epilepsy/seizures: developed febrile seizures at 9 months of age, then afebrile generalized seizures that were well-controlled on clobazam. EEG: mild-to-moderate disturbance of cerebral activity in the form of paroxysmal activity. Brain imaging: delayed myelination bilaterally on brain MRI at 3 years of age. Auditory evaluation: bilateral mild-to-moderate sensorineural hearing loss noted at 23 months of age. Dysmorphic features: thin upper lip, slightly long and well-defined philtrum, mild retromicrognathia, bulbous nose, arched eyebrows. Growth parameters: weight of 18.3 kg (90th %ile), height of 87 cm (2nd %ile), and head circumference of 48.5 cm (25th %ile) at 3 years of age. Family history: born to healthy, non-consanguineous parents of Moroccan origin; 2 healthy developmentally normal siblings.
 Global developmental delay
 23408742
 24595702
  1186961
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case100555L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 22362148
 22369301
  7154
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case154266L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 23221698
 23228481
  6784
 Unknown
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case83548L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 23253981
 23259616
  5636
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11090.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
 23305822
 23820894
  515073
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11090.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
 23840313
 24603137
  762825
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12096.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
 23438888
 23510307
  71420
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12261.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
 23579240
 23638681
  59442
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12367.p1
 9.4
 M
 ASD
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
 23688720
 23696660
  7941
 GRCh38
 Duplication
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case26
 8 yrs.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
 
 23553376
 23835986
  282611
 GRCh38
 Duplication
 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).
 241934
 289680
  47747
 GRCh38
 Duplication
 No
  sato_12_ASD_discovery_cases_2-family1caseIV-3
 5 yrs. 8 mos.
 M
 Asperger
 Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
 Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
 241934
 289680
  47747
 GRCh38
 Deletion
 No
  schuch_19_ASD_discovery_cases-case11
  NA NA
 N/A
 M
 ASD
 PDD-NOS, psychomotor agitation, echolalia, mood instability.
 
 25225955
 25403615
  177661
 GRCh38
 Deletion
 No
  shen_10b_ASD_discovery_cases-caseII:5
 41 yrs.
 M
 ASD
 Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
 IQ not tested; significant childhood learning disability
 22677959
 22725305
  47346
 Unknown
 Deletion
 No
  shen_10b_ASD_discovery_cases-caseIII:1
 12 yrs.
 M
 ASD
 Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
 Mental retardation. WISC IQ score of 46.
 23984069
 24222194
  238125
 Unknown
 Duplication
 No
  shen_10b_ASD_discovery_cases-caseIII:1
 12 yrs.
 M
 ASD
 Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
 Mental retardation. WISC IQ score of 46.
 22677959
 22725305
  47346
 Unknown
 Deletion
 No
  stamouli_18_ASD/NDD_discovery_cases-family11_Twin_1
  NA NA
 N/A
 M
 ADHD
 Case is from a monozygotic twin pair from the Concordant NDD diagnostic group (MZ male pair concordant for ADHD and discordant for tic disorder)
 
 23438888
 23510307
  71420
 GRCh38
 Deletion
 No
  stamouli_18_ASD/NDD_discovery_cases-family11_Twin_2
  NA NA
 N/A
 M
 ADHD
 Case is from a monozygotic twin pair from the Concordant NDD diagnostic group (MZ male pair concordant for ADHD and discordant for tic disorder)
 
 23438888
 23512095
  73208
 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)
 240560
 298753
  58194
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case621
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 23563263
 23611017
  47755
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case622
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 290977
 299005
  8029
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case623
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 290977
 299005
  8029
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case624
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 290977
 299005
  8029
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case625
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 290977
 299005
  8029
 GRCh38
 Deletion
 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-controlB369176_1007843525
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24667814
  24713060
  45247
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB868245_1007871688
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25509701
  25558486
  48786
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB874415_1007853863
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24891922
  25301030
  409109
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900136_900136
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24671908
  24713060
  41153
  GRCh38
  Deletion
  No
  guo_17_ASD_discovery_controls-controlPY4109
  N/A
  N/A
  Control
  No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
 
  23471071
  24581933
  1110863
  GRCh38
  Deletion
  Yes
  krumm_13_ASD_discovery_controls-control11242.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11242. SRS score of 48.
 
  23692030
  23695019
  2990
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11028.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  267785
  304135
  36351
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11052.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  219236
  273688
  54453
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11242.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  23692030
  23696688
  4659
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11301.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  267785
  304135
  36351
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11530.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  219236
  273688
  54453
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11788.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  194646
  273688
  79043
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12367.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  23692030
  23696688
  4659
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12457.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  219236
  273688
  54453
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12497.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  219236
  304135
  84900
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12766.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  219236
  273688
  54453
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12967.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  219236
  273688
  54453
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13136.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  207901
  273688
  65788
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13619.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  23608760
  24589949
  981190
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13634.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  23692030
  23696688
  4659
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14215.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  219236
  273688
  54453
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14229.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  219236
  273688
  54453
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14493.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  23895039
  24098192
  203154
  GRCh38
  Duplication
  Yes
  poultney_13_ASD_discovery_controls-control04C37831A
  N/A
  F
  Control
  NIMH Control (NIMH ID 92135)
 
  25231602
  25357428
  125827
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C41783A
  N/A
  M
  Control
  NIMH Control (NIMH ID 95046)
 
  25319765
  25604455
  284691
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44567
  N/A
  M
  Control
  NIMH Control (NIMH ID 29052)
 
  25231602
  25357428
  125827
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12096.s1
  9.7
  M
  Control (matched sibling)
  NA
  NA
  23438888
  23509514
  70627
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12261.s1
  21.5
  M
  Control (matched sibling)
  NA
  NA
  23579240
  23637155
  57916
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12347.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  23756956
  23771357
  14402
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13015.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  23579240
  23637155
  57916
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 celestino-soper_11_ASD_discovery_cases-11417
 aCGH (Agilent 4x180K or 8x60K)
 
 Inherited
 Simplex
 NA
 
 
 celestino-soper_11_ASD_discovery_cases-11417
 aCGH (Agilent 4x180K or 8x60K)
 
 Inherited
 Simplex
 NA
 
 
 chilian_13_DD/ID_discovery_cases-case1
 
 
 Unknown
 Possibly simplex (no info on 1st child)
 Unknown
 
 
 dabell_13_ASD/DD/ID_discovery_cases-patient36
 
 
 Paternal
 Unknown
 Unknown
 LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 davis_09_ASD_discovery_cases-AU0039303
 
 
 Unknown
 Unknown
 Unknown
 CRYBB3, CRYBB2, IGLL3, LRP5L, DRBK2
 
 davis_09_ASD_discovery_cases-AU008404
 
 
 Unknown
 Unknown
 Unknown
 IGLL3, LRP5
 
 davis_09_ASD_discovery_cases-AU021903
 
 
 Unknown
 Unknown
 Unknown
 IGLL3, LRP5L, ADRBK2
 
 davis_09_ASD_discovery_cases-AU059003
 
 
 Unknown
 Unknown
 Unknown
 LRP5, IGLL3
 
 engchuan_15_ASD_discovery_cases-case14242_3660
 
 
 Unknown
 
 
 BCRP1,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 engchuan_15_ASD_discovery_cases-case14242_3660
 
 
 Unknown
 
 
 LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11
 
 engchuan_15_ASD_discovery_cases-case14291_4120
 
 
 Unknown
 
 
 RN7SL268P,MIF,MIF-AS1,SMARCB1,DERL3,SLC2A11
 
 engchuan_15_ASD_discovery_cases-case5551_3
 
 
 Unknown
 
 
 IGLL1,DRICH1,GUSBP11
 
 engchuan_15_ASD_discovery_cases-case6275_3
 
 
 Unknown
 
 
 
 
 gai_11_ASD_discovery_cases-AU1284301
 
 
 Inherited
 
 
 SGSM1, TMEM211, KIAA1671
 
 girirajan_13a_ASD_discovery_cases-13804.p1
 
 
 Unknown
 Simplex
 Unknown
 LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 girirajan_13b_ASD_discovery_cases-20207108119
 
 
 Unknown
 Unknown
 Unknown
 IGLL3P,IGLVIVOR22-1,MIR6817,LRP5L,CRYBB2P1,GRK3
 
 girirajan_13b_ASD_discovery_cases-21908109957
 
 
 Unknown
 Unknown
 Unknown
 MMP11,SMARCB1,DERL3,SLC2A11
 
 girirajan_13b_ASD_discovery_cases-28305103475
 
 
 Unknown
 Unknown
 Unknown
 MMP11,SMARCB1,DERL3,SLC2A11
 
 itsara_10_ASD_discovery_cases-HI0172
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000841
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGLL3P,IGLVIVOR22-1,MIR6817,LRP5L,CRYBB2P1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001144
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 CRYBB3,TMEM211,CRYBB2,SGSM1,KIAA1671
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001589
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,ARL5AP4,CRIP1P4,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,POM121L10P,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,PIWIL3,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001595
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001730
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,BCR
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002665
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,POM121L10P,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003979
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004014
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004489
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004568
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,POM121L10P,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004774
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004789
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004881
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,POM121L10P,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,CABIN1
 
 krumm_13_ASD_discovery_cases-case11090.p1
 Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
 Maternal
 Simplex
 Segregated
 VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11
 
 krumm_13_ASD_discovery_cases-case11090.p1
 Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
 Maternal
 Simplex
 Segregated
 BCRP1,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 krumm_15_ASD_discovery_cases-case11031.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 
 
 krumm_15_ASD_discovery_cases-case11090.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 BCRP1,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 krumm_15_ASD_discovery_cases-case11285.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 
 
 krumm_15_ASD_discovery_cases-case11297.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 
 
 krumm_15_ASD_discovery_cases-case11301.p1
 Illumina 1M
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 
 
 krumm_15_ASD_discovery_cases-case11329.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 
 
 krumm_15_ASD_discovery_cases-case11394.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 
 
 krumm_15_ASD_discovery_cases-case11512.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 
 
 krumm_15_ASD_discovery_cases-case12231.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 
 
 krumm_15_ASD_discovery_cases-case12361.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 
 
 krumm_15_ASD_discovery_cases-case12367.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GUSBP11,RGL4
 
 krumm_15_ASD_discovery_cases-case12497.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 
 
 krumm_15_ASD_discovery_cases-case12669.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 
 
 krumm_15_ASD_discovery_cases-case12722.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 
 
 krumm_15_ASD_discovery_cases-case13136.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 
 
 krumm_15_ASD_discovery_cases-case13150.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 
 
 krumm_15_ASD_discovery_cases-case13226.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 
 
 krumm_15_ASD_discovery_cases-case13244.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 
 
 krumm_15_ASD_discovery_cases-case13336.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 GUSBP11,RGL4
 
 krumm_15_ASD_discovery_cases-case13377.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 
 
 krumm_15_ASD_discovery_cases-case13536.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 
 
 krumm_15_ASD_discovery_cases-case13804.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 krumm_15_ASD_discovery_cases-case14188.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 
 
 krumm_15_ASD_discovery_cases-case14215.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 
 
 kushima_18_SCZ_discovery_cases-caseSCZ0011
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Inherited
 Not simplex
 
 LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 kushima_18_SCZ_discovery_cases-caseSCZ0134
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Inherited
 Not simplex
 
 LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,CABIN1
 
 leblond_12_ASD_replication_cases-Pintocase5237_3
 
 
 Both parents
 
 
 
 
 leppa_16_ASD_discovery_cases-AU004104
 qPCR; error in sample naming in qPCR
 
 De novo
 Multiplex
 Not segregated (CNV not present in affected sibling)
 LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 leppa_16_ASD_discovery_cases-AU1202201
 
 
 Maternal
 Multiplex
 Not segregated (CNV not present in affected sibling AU1202202)
 LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 levy_11_ASD_discovery_cases-11090.p1
 
 
 Maternal
 Simplex
 Segregated
 LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11
 
 levy_11_ASD_discovery_cases-11090.p1
 
 
 Maternal
 Simplex
 Segregated
 BCRP1,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 maini_18_ASD/DD/ID_discovery_cases-case156
 
 
 Paternal
 Not simplex
 Unknown
 MMP11,SMARCB1
 
 maini_18_ASD/DD/ID_discovery_cases-case213
 
 
 Paternal
 Simplex
 Unknown
 CABIN1
 
 morrow_08_ASD_discovery_cases-case1602
 
 
 Maternal
 NA
 NA
 5' end of ADRBK2
 
 morrow_08_ASD_discovery_cases-case1603
 
 
 Maternal
 NA
 NA
 5' end of ADRBK2
 
 morrow_08_ASD_discovery_cases-case1604
 
 
 Maternal
 NA
 NA
 5' end of ADRBK2
 
 morrow_08_ASD_discovery_cases-case3604
 
 
 Paternal
 Multiplex
 NA
 3' end of PIWIL3
 
 morrow_08_ASD_discovery_cases-case3605
 
 
 Paternal
 Multiplex
 NA
 3' end of GGT1
 
 morrow_08_ASD_discovery_cases-case6501
 
 
 Unknown
 NA
 NA
 LRP5L
 
 morrow_08_ASD_discovery_cases-case7001
 
 
 Paternal
 NA
 NA
 IGLL1
 
 morrow_08_ASD_discovery_cases-case7901
 
 
 Maternal
 NA
 NA
 LRP5L
 
 morrow_08_ASD_discovery_cases-case8501
 
 
 Maternal
 NA
 NA
 LRP5L
 
 munnich_19_ASD_discovery_cases-case32
 FISH
 
 Paternal
 
 
 LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,ZDHHC8P1,FAM230I,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 newbury_12_ASD/CAS_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown (common in DGV)
 
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
 
 
 Paternal
 Multi-generational
 Unknown
 
 
 pinchefsky_17_DD_discovery_cases-case1
 FISH
 
 De novo
 Simplex
 Segregated
 LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 prasad_12_ASD_discovery_cases-case100555L
 
 
 Unknown
 Unknown
 Unknown
 LOC91316,RGL4
 
 prasad_12_ASD_discovery_cases-case154266L
 qPCR
 
 Maternal
 Simplex
 Not segregated (deletion present in unaffected female sibling)
 UPB1
 
 prasad_12_ASD_discovery_cases-case83548L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11090.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,BCR
 
 sanders_11_ASD_discovery_cases-11090.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 sanders_11_ASD_discovery_cases-12096.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12261.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 IGLL1,DRICH1,GUSBP11
 
 sanders_11_ASD_discovery_cases-12367.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 GUSBP11,RGL4
 
 sansovic_17_DD/ID/ASD_discovery_cases-case26
 
 
 Unknown
 
 
 ASLP1,VPREB3,C22orf15,CHCHD10,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3
 
 sato_12_ASD_discovery_cases_1-family1caseIII-5
 
 Possibly maternal
 Unknown
 Simplex for ASD; multiplex for anxiety disorder
 Unknown
 
 
 sato_12_ASD_discovery_cases_2-family1caseIV-3
 
 Possibly maternal
 Unknown
 Multiplex (brother with Asperger)
 Unknown
 
 
 schuch_19_ASD_discovery_cases-case11
 
 
 Unknown
 Unknown
 Unknown
 IGLL3P,CRYBB2,LRP5L
 
 shen_10b_ASD_discovery_cases-caseII:5
 
 
 Paternal
 Simplex
 Unknown
 LOC391322,GSTT1
 
 shen_10b_ASD_discovery_cases-caseIII:1
 
 Paternal
 Maternal
 Simplex (ASD), Multiplex (language delay)
 Not segregated
 LRP5L
 
 shen_10b_ASD_discovery_cases-caseIII:1
 
 Paternal
 Paternal
 Simplex (ASD), Multiplex (language delay)
 Not segregated
 LOC391322,GSTT1
 
 stamouli_18_ASD/NDD_discovery_cases-family11_Twin_1
 
 
 Paternal
 Multiplex
 Segregated (CNV present in both affected twins)
 
 
 stamouli_18_ASD/NDD_discovery_cases-family11_Twin_2
 
 
 Paternal
 Multiplex
 Segregated (CNV present in both affected twins)
 
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 
 
 yin_16_ASD_discovery_cases-case621
 
 
 Unknown
 Unknown
 Unknown
 IGLL1,DRICH1
 
 yin_16_ASD_discovery_cases-case622
 
 
 Unknown
 Unknown
 Unknown
 
 
 yin_16_ASD_discovery_cases-case623
 
 
 Unknown
 Unknown
 Unknown
 
 
 yin_16_ASD_discovery_cases-case624
 
 
 Unknown
 Unknown
 Unknown
 
 
 yin_16_ASD_discovery_cases-case625
 
 
 Unknown
 Unknown
 Unknown
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB369176_1007843525
 
 
  Unknown
 
 
  ARL5AP4,CRIP1P4
 
engchuan_15_ASD_discovery_controls-controlB868245_1007871688
 
 
  Unknown
 
 
  CRYBB2P1
 
engchuan_15_ASD_discovery_controls-controlB874415_1007853863
 
 
  Unknown
 
 
  CRYBB3,TMEM211,CRYBB2,SGSM1,KIAA1671
 
engchuan_15_ASD_discovery_controls-controlHABC_900136_900136
 
 
  Unknown
 
 
  ARL5AP4,CRIP1P4
 
guo_17_ASD_discovery_controls-controlPY4109
  qPCR
 
  Unknown
 
 
  LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
krumm_13_ASD_discovery_controls-control11242.s1
 
 
  Paternal
  Simplex
 
  GUSBP11,RGL4
 
krumm_15_ASD_discovery_controls-control11028.s1
  Illumina 1M
 
  De novo
 
 
 
 
krumm_15_ASD_discovery_controls-control11052.s1
  Illumina 1M
 
  De novo
 
 
 
 
krumm_15_ASD_discovery_controls-control11242.s1
  Illumina 1M
 
  Paternal
 
 
  GUSBP11,RGL4
 
krumm_15_ASD_discovery_controls-control11301.s1
  Illumina 1M
 
  De novo
 
 
 
 
krumm_15_ASD_discovery_controls-control11530.s1
  Illumina 1M
 
  Maternal
 
 
 
 
krumm_15_ASD_discovery_controls-control11788.s1
  Illumina 1MDuo
 
  Maternal
 
 
 
 
krumm_15_ASD_discovery_controls-control12367.s1
  Illumina 1MDuo
 
  Paternal
 
 
  GUSBP11,RGL4
 
krumm_15_ASD_discovery_controls-control12457.s1
  Illumina 1MDuo
 
  Paternal
 
 
 
 
krumm_15_ASD_discovery_controls-control12497.s1
  Illumina 1MDuo
 
  Paternal
 
 
 
 
krumm_15_ASD_discovery_controls-control12766.s1
  1M-Duov3
 
  Maternal
 
 
 
 
krumm_15_ASD_discovery_controls-control12967.s1
  1M-Duov3
 
  Maternal
 
 
 
 
krumm_15_ASD_discovery_controls-control13136.s1
  Illumina 1MDuo
 
  Maternal
 
 
 
 
krumm_15_ASD_discovery_controls-control13619.s1
  Omni2.5-4v1
 
  Maternal
 
 
  ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
krumm_15_ASD_discovery_controls-control13634.s1
  1M-Duov3
 
  Maternal
 
 
  GUSBP11,RGL4
 
krumm_15_ASD_discovery_controls-control14215.s1
  Omni2.5-4v1
 
  Maternal
 
 
 
 
krumm_15_ASD_discovery_controls-control14229.s1
  Omni2.5-4v1
 
  De novo
 
 
 
 
krumm_15_ASD_discovery_controls-control14493.s1
  Omni2.5-4v1
 
  Paternal
 
 
  MIF,MIF-AS1,GSTT2B,DDT,GSTT2,DDTL,GSTT4,CABIN1
 
poultney_13_ASD_discovery_controls-control04C37831A
 
 
  Unknown
 
 
  IGLL3P,CRYBB2,LRP5L
 
poultney_13_ASD_discovery_controls-control05C41783A
 
 
  Unknown
 
 
  IGLL3P,IGLVIVOR22-1,MIR6817,LRP5L,CRYBB2P1,GRK3
 
poultney_13_ASD_discovery_controls-control05C44567
 
 
  Unknown
 
 
  IGLL3P,CRYBB2,LRP5L
 
sanders_11_ASD_discovery_controls-12096.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12261.s1
 
 
  Maternal
  Simplex (quad)
  NA
  IGLL1,DRICH1
 
sanders_11_ASD_discovery_controls-12347.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C22orf15,CHCHD10,MMP11
 
sanders_11_ASD_discovery_controls-13015.s1
 
 
  Maternal
  Simplex (quad)
  NA
  IGLL1,DRICH1
 

No Animal Model Data Available
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