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6p25.3CNV Type: Deletion-Duplication


Largest CNV size: 1327500 bp

Statistics Box:
Number of Reports: 22


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
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...
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
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
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.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion-Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
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
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
Deletion
NA
Deletion
Diagnostic yield of patients with undiagnosed intellectual disability
Deletion
NA
Deletion
NA
Deletion-Duplication

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
 102635
 0
 1
 1
 chehbani_22_ASD_discovery_cases
  NA NA
 Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
 98
 Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
 Range, 3-18 yrs.
 84.69% Male
 123405
 5
 0
 5
 cucinotta_23_ASD_discovery_cases
  NA NA
 Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
 329
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 NA
 84.19% Male
 123405
 9
 1
 10
 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
 168337
 1
 1
 2
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 287159
 2
 7
 9
 firouzabadi_16_ASD_discovery_cases
 Sporadic ASD cases born to unrelated parents with no family history of ASD, with an additional ASD case with an affected father
 15
 ASD cases met DSM5 criteria and were diagnosed by pediatric neurologists specializing in autism
 N/A
 N/A
 34000
 1
 0
 1
 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
 
 
 279180
 0
 2
 2
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 539000
 0
 3
 3
 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
 1788501
 55
 72
 127
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 132140
 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
 131621
 1
 0
 1
 leite_22_DD/ID_discovery_cases
 Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
 369
 Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
 93.2% of cases under 18 yrs.
 47.4% Male
 121577
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 92601
 1
 0
 1
 lintas_17_ASD_discovery_cases
 ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
 41
 Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
 N/A
 87.80% Male
 39213
 1
 0
 1
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 123797
 1
 1
 2
 monteiro_19_ASD_discovery_cases
  NA NA
 Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
 253
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
 N/A
 76.68% Male
 63000
 1
 0
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 2185732
 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
 
 
 41261
 1
 2
 3
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 578359
 2
 1
 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
 532680
 3
 1
 4
 szatmari_07_ASD_discovery_cases
 ASD patients from 173 families with at least two affected individuals from AGP
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 1327500
 0
 2
 2
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 122236
 0
 1
 1
 vaags_11_ASD_replication_cases_2
 Replication cohort consisting of patients referred to the Mayo Clinic
 1796
 Autism or pervasive developmental disorder (PDD)
 NA
 NA
 57352
 1
 0
 1

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
 190007
 4
 3
 7
 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
 24679
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 167966
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 216936
 0
 1
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 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)
 578359
 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.
 
 8450
 1
 0
 1

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 SurePrint G3)
 chehbani_22_ASD_discovery_cases
  Tunisia
 aCGH
  Agilent SurePrint G3
 ADM-2
 Agilent Cytogenomic v.4.0.3.12.
 None
 cucinotta_23_ASD_discovery_cases
  Italy
 aCGH
  Agilent SurePrint 4180K
 ADM-2
 Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
 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
 firouzabadi_16_ASD_discovery_cases
  Iranian
 aCGH
  BlueGnome CytoChip ISCA 8x60K v2.0
 
 BlueFuse Multi v3
 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
 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)
 leblond_12_ASD_replication_cases
  1 Canadian, 1 French
 Solid phase hybridization
  Illumina 1M SNP array
 QuantiSNP, PennCNV
 
 None
 leite_22_DD/ID_discovery_cases
  Brazil
 CMA
  Thermofisher GeneChip CytoScanHD
 NA
 ThermoFisher ChAS v.3.0
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 lintas_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome CGH SurePrint G3 4x180K
 ADM-2
 Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
 Validation by visual inspection, RT-PCR, or PCR
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 monteiro_19_ASD_discovery_cases
  Portuguese
 aCGH
  Agilent SurePrint G3 4x180K
 
 Agilent Cytogenomics
 None
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 FISH
 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)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 
 
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 10K (v2)
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 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
 vaags_11_ASD_replication_cases_2
  NA
 aCGH
  Agilent 44K & 244K
 
 
 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
  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_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  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
 
 

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-11461
 NA
 M
 ASD
 NA
 NA
 292390
 395025
  102636
 GRCh38
 Duplication
 Yes
  chehbani_22_ASD_discovery_cases-case19
  NA NA
 NA
 NA
 ASD
 Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
 
 266078
 389482
  123405
 GRCh38
 Deletion
 No
  chehbani_22_ASD_discovery_cases-case20
  NA NA
 NA
 NA
 ASD
 Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
 
 266078
 378956
  112879
 GRCh38
 Deletion
 No
  chehbani_22_ASD_discovery_cases-case3
  NA NA
 NA
 M
 ASD
 Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
 
 266078
 389482
  123405
 GRCh38
 Deletion
 No
  chehbani_22_ASD_discovery_cases-case4
  NA NA
 NA
 M
 ASD
 Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
 
 266078
 389482
  123405
 GRCh38
 Deletion
 No
  chehbani_22_ASD_discovery_cases-case87
  NA NA
 NA
 F
 ASD and intellectual disability
 Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
 Intellectual disability.
 266078
 389482
  123405
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case223
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 266078
 362290
  96213
 GRCh38
 Duplication
 No
  cucinotta_23_ASD_discovery_cases-case247
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 266078
 378956
  112879
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case259
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 266078
 389482
  123405
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case300
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 266078
 389482
  123405
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case326
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 266078
 378956
  112879
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case335
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 266078
 378956
  112879
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case363
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 266078
 378956
  112879
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case368
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 266078
 378956
  112879
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case374
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 266078
 378956
  112879
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case406
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 266078
 378956
  112879
 GRCh38
 Deletion
 No
  davis_09_ASD_discovery_cases-AU007605
 NA
 NA
 Non-syndromic ASD
 Diagnosis: Autism/spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 178750
 312109
  133359
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU038303
 NA
 NA
 Non-syndromic ASD
 Diagnosis: Autism/spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 178750
 347087
  168337
 Unknown
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13007_83
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 812136
 849087
  36952
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13133_1503
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 821327
 858212
  36886
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13145_1623
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 2058876
 2346035
  287160
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3118_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 188878
 237215
  48338
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4253_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 495636
 698538
  202903
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5295_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1066194
 1107454
  41261
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5444_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1695205
 1725928
  30724
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6242_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 676615
 778678
  102064
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6242_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1231786
 1445812
  214027
 GRCh38
 Duplication
 No
  firouzabadi_16_ASD_discovery_cases-patient7
 9 yrs.
 M
 ASD
 Case met DSM5 criteria for ASD and was diagnosed by pediatric neurologists specializing in autism. Epilepsy/seizures: seizures. Dysmorphic features: minor dysmorphic facial features.
 Intellectual disability
 259345
 293593
  34249
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1182302
 
 
 Autism
 
 
 556969
 836148
  279180
 Unknown
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1215301
 
 
 Autism
 
 
 828074
 924803
  96730
 Unknown
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-12465.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
 1074765
 1614766
  540002
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-12860.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
 2054767
 2324767
  270001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-14016.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
 1494766
 1744767
  250002
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000005
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000021
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000082
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000085
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000102
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000110
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000120
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000123
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000130
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000131
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000144
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 163083
 1951351
  1788269
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000159
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000162
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000164
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000168
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000192
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000205
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000248
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000349
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000377
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000381
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000410
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000411
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000471
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000593
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000601
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000602
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000638
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000644
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000674
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000705
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 389482
  129955
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000783
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000786
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000795
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000801
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000809
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000819
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000831
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 439290
  179763
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000836
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000912
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000936
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000943
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 293441
 389482
  96042
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000947
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000948
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000957
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000961
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000968
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000974
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000984
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000988
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000993
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000997
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001003
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001013
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001016
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001019
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001023
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001035
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001036
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001037
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001038
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001043
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001045
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001048
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001051
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001053
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 266079
 339802
  73724
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001062
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001067
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001068
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001070
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001075
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001078
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001083
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001085
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001088
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001089
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001103
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001109
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001110
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001115
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001116
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001118
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001120
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001127
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001134
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001136
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001139
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001144
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001156
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001164
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001167
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001171
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001175
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001183
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001184
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001192
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001194
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001196
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001200
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001201
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001207
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001215
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001216
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001217
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001218
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001221
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001223
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001225
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001226
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001227
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001228
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001229
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001230
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001234
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001240
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 307998
  48471
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001245
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001248
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001250
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 293493
  33966
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001256
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001259
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001262
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001263
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001265
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 259528
 339802
  80275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001690
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1605533
 1739699
  134167
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004393
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 163083
 588213
  425131
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004877
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1093293
 2155578
  1062286
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005404
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 163083
 918985
  755903
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12465.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 1312704
 1394859
  82156
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14016.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1610445
 1742586
  132142
 GRCh38
 Duplication
 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)
 249597
 381217
  131621
 GRCh38
 Deletion
 No
  leite_22_DD/ID_discovery_cases-case049
 13 yrs.
 M
 Developmental delay
 Global developmental delay, multiple stigmas
 
 254252
 375828
  121577
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11416.p1
 NA
 M
 ASD
 NA
 NA
 1871768
 1964368
  92601
 GRCh38
 Deletion
 No
  lintas_17_ASD_discovery_cases-case4.1
 N/A
 N/A
 Autism
 No additional clinical information available
 
 339743
 378956
  39214
 GRCh38
 Deletion
 Yes
  lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 13 yrs.
 F
 ASD
 Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
 Completed secondary school degree with exception of mathematics
 257353
 381149
  123797
 GRCh38
 Deletion
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband3
 15 yrs.
 M
 ASD and ID
 Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.
 Intellectual disability
 296674
 366807
  70134
 GRCh38
 Duplication
 No
  monteiro_19_ASD_discovery_cases_case23
  NA NA
 N/A
 M
 ASD
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: normal (no developmental delay). Dysmorphic features: none reported.
 Normal (no intellectual disability)
 266079
 328956
  62878
 GRCh38
 Deletion
 No
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC34382
 N/A
 M
 Developmental delay
 Database: Signature. Indication for study: Developmental Delay, arr cgh 6p25.3(RP3-416J7->RP11-58P20)x1
 Developmental delay
 144702
 2330200
  2185499
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case13007_83
 NA
 M
 Autism
 Verbal, bilateral strabismus, atypical gait
 Mild MR
 812136
 849087
  36952
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5295_4
 NA
 M
 ASD
 NA
 NA
 1066194
 1107454
  41261
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5444_3
 NA
 M
 Autism
 Below average language (1%ile), regression of language and motor skills at age 3 y, myoclonic epilepsy, selfinjurious behavior, sleep disorder (altered circadian rhythm according to parents), no dysmorphic features
 MR (unable to complete IQ measure)
 1695205
 1725928
  30724
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case103022L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 1642971
 1670756
  27786
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case52217
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 1013383
 1056856
  43474
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case90404
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 99130
 677488
  578359
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11133.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
 1996709
 2005448
  8740
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11216.p1
 4.7
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
 1688157
 1697964
  9808
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12465.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 105
 1074687
 1607368
  532682
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12472.p1
 5.6
 F
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
 1996709
 2005448
  8740
 GRCh38
 Deletion
 No
  szatmari_07_ASD_discovery_cases-NAAR073-A1-02C09714
 NA
 
 ASD
 NA
 NA
 205610
 1532876
  1327267
 GRCh38
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR073-A3-02C09716
 NA
 
 ASD
 NA
 NA
 205610
 1532876
  1327267
 GRCh38
 Duplication
 Yes
  vaags_11_ASD_discovery_cases-probandF2-003
 3 yrs. 5 mos.
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 256863
 379098
  122236
 GRCh38
 Duplication
 No
  vaags_11_ASD_replication_cases_2-probandF4-003
 3 yrs. 6 mos.
 M
 Autism
 Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 236142
 293493
  57352
 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-controlB237493_1007841091
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1068165
  1107454
  39290
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB407301_1007871721
  N/A
  N/A
  Control
  No previous psychiatric history
 
  566509
  606568
  40060
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB446357_1007852622
  N/A
  N/A
  Control
  No previous psychiatric history
 
  149609
  233750
  84142
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB659155_1007854741
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2156028
  2346035
  190008
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB931598_1007872875
  N/A
  N/A
  Control
  No previous psychiatric history
 
  154536
  312247
  157712
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900597_900597
  N/A
  N/A
  Control
  No previous psychiatric history
 
  205610
  295831
  90222
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900603_900603
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1068165
  1109231
  41067
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1932
  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
 
  955559
  980237
  24679
  Unknown
  Duplication
  No
  krumm_15_ASD_discovery_controls-control11325.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  488978
  656944
  167967
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11325.s1
  NA
  M
  Control
  NA
  NA
  489288
  706223
  216936
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11216.s1
  6.4
  M
  Control (matched sibling)
  NA
  NA
  1688157
  1696607
  8451
  GRCh38
  Deletion
  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-11461
 aCGH (Agilent SurePrint G3)
 
 Inherited
 Simplex
 NA
 DUSP22,IRF4
 
 chehbani_22_ASD_discovery_cases-case19
 
 
 Unknown
 Simplex
 
 DUSP22
 
 chehbani_22_ASD_discovery_cases-case20
 
 
 Unknown
 Simplex
 
 DUSP22
 
 chehbani_22_ASD_discovery_cases-case3
 
 
 Unknown
 Multiplex
 Segregated
 DUSP22
 
 chehbani_22_ASD_discovery_cases-case4
 
 
 Unknown
 Multiplex
 Segregated
 DUSP22
 
 chehbani_22_ASD_discovery_cases-case87
 
 
 Unknown
 Simplex
 
 DUSP22
 
 cucinotta_23_ASD_discovery_cases-case223
 
 
 Maternal
 
 
 DUSP22
 
 cucinotta_23_ASD_discovery_cases-case247
 
 
 Paternal
 
 
 DUSP22
 
 cucinotta_23_ASD_discovery_cases-case259
 
 
 De novo
 
 
 DUSP22
 
 cucinotta_23_ASD_discovery_cases-case300
 
 
 Paternal
 
 
 DUSP22
 
 cucinotta_23_ASD_discovery_cases-case326
 
 
 Paternal
 
 
 DUSP22
 
 cucinotta_23_ASD_discovery_cases-case335
 
 
 Maternal
 
 
 DUSP22
 
 cucinotta_23_ASD_discovery_cases-case363
 
 
 Maternal
 
 
 DUSP22
 
 cucinotta_23_ASD_discovery_cases-case368
 
 
 Paternal
 
 
 DUSP22
 
 cucinotta_23_ASD_discovery_cases-case374
 
 
 Paternal
 
 
 DUSP22
 
 cucinotta_23_ASD_discovery_cases-case406
 
 
 Maternal
 
 
 DUSP22
 
 davis_09_ASD_discovery_cases-AU007605
 
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 davis_09_ASD_discovery_cases-AU038303
 
 
 Unknown
 Multiplex
 Unknown
 DUSP22, IRF4
 
 engchuan_15_ASD_discovery_cases-case13007_83
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13133_1503
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13145_1623
 
 
 Unknown
 
 
 HMGN2P28,GMDS-DT,GMDS
 
 engchuan_15_ASD_discovery_cases-case3118_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4253_1
 
 
 Unknown
 
 
 HUS1B,EXOC2
 
 engchuan_15_ASD_discovery_cases-case5295_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5444_3
 
 
 Unknown
 
 
 GMDS
 
 engchuan_15_ASD_discovery_cases-case6242_4
 
 
 Unknown
 
 
 EXOC2
 
 engchuan_15_ASD_discovery_cases-case6242_4
 
 
 Unknown
 
 
 FOXQ1,LINC01394,MIR6720,FOXF2
 
 firouzabadi_16_ASD_discovery_cases-patient7
 
 
 Paternal
 Simplex
 Unknown
 DUSP22
 
 gai_11_ASD_discovery_cases-AU1182302
 
 
 Inherited
 
 
 EXOC2, HUS1B
 
 gai_11_ASD_discovery_cases-AU1215301
 
 
 Inherited
 
 
 LOC285768
 
 girirajan_13a_ASD_discovery_cases-12465.p1
 
 
 Unknown
 Simplex
 Unknown
 FOXQ1,LINC01394,MIR6720,FOXC1,FOXF2,RN7SL352P,FOXCUT
 
 girirajan_13a_ASD_discovery_cases-12860.p1
 
 
 Unknown
 Simplex
 Unknown
 GMDS-DT,GMDS
 
 girirajan_13a_ASD_discovery_cases-14016.p1
 
 
 Unknown
 Simplex
 Unknown
 FOXC1,RN7SL352P,FOXCUT,GMDS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000005
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000021
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000082
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000085
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000102
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000110
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000120
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000123
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000130
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000131
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000144
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,DUSP22,FOXF2,RN7SL352P,FOXCUT,IRF4,EXOC2,GMDS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000159
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000162
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000164
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000168
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000192
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000205
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000248
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000349
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000377
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000381
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000410
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000411
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000471
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000593
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000601
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000602
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000638
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000644
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000674
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000705
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000783
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000786
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000795
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000801
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000809
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000819
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000831
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22,IRF4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000836
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000912
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000936
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000943
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000947
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000948
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000957
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000961
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000968
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000974
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000984
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000988
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000993
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000997
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001003
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001013
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001016
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001019
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001023
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001035
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001036
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001037
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001038
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001043
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001045
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001048
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001051
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001053
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001062
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001067
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001068
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001070
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001075
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001078
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001083
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001085
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001088
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001089
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001103
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001109
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001110
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001115
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001116
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001118
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001120
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001127
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001134
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001136
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001139
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001144
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001156
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001164
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001167
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001171
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001175
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001183
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001184
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001192
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001194
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001196
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001200
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001201
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001207
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001215
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001216
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001217
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001218
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001221
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001223
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001225
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001226
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001227
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001228
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001229
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001230
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001234
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001240
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001245
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001248
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001250
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001256
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001259
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001262
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001263
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001265
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001690
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 FOXC1,FOXCUT,GMDS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004393
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DUSP22,IRF4,EXOC2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004877
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FOXQ1,LINC01394,MIR6720,FOXC1,FOXF2,RN7SL352P,FOXCUT,GMDS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005404
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HUS1B,DUSP22,IRF4,EXOC2
 
 krumm_15_ASD_discovery_cases-case12465.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 FOXQ1,LINC01394,MIR6720,FOXF2
 
 krumm_15_ASD_discovery_cases-case14016.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 FOXC1,GMDS
 
 leblond_12_ASD_replication_cases-Pintocase5237_3
 
 
 De novo
 
 
 DUSP22
 
 leite_22_DD/ID_discovery_cases-case049
 
 
 De novo
 
 
 DUSP22
 
 levy_11_ASD_discovery_cases-11416.p1
 
 
 Paternal
 Simplex
 Segregated
 GMDS
 
 lintas_17_ASD_discovery_cases-case4.1
 Validation by visual inspection, RT-PCR, or PCR
 
 Maternal
 Multiplex
 Not segregated (CNV only observed in 1/2 affected siblings)
 DUSP22
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 
 
 Unknown
 Simplex
 Unknown
 DUSP22
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband3
 
 
 Unknown
 Simplex
 Unknown
 DUSP22
 
 monteiro_19_ASD_discovery_cases_case23
 
 
 Maternal
 
 
 DUSP22
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC34382
 FISH
 
 Unknown
 Unknown
 Unknown
 CICP18,HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,DUSP22,FOXF2,RN7SL352P,FOXCUT,IRF4,EXOC2,GMDS-DT,GMDS
 
 pinto_10_ASD_discovery_cases-case13007_83
 qPCR-Denovo
 
 De novo
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5295_4
 Agilent1M
 
 maternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5444_3
 Agilent1M-Maternal
 
 maternal
 Simplex
 NA
 GMDS
 
 prasad_12_ASD_discovery_cases-case103022L
 
 
 Unknown
 Unknown
 Unknown
 GMDS
 
 prasad_12_ASD_discovery_cases-case52217
 
 
 Unknown
 Unknown
 Unknown
 LOC285768
 
 prasad_12_ASD_discovery_cases-case90404
 
 
 Unknown
 Unknown
 Unknown
 EXOC2,HUS1B,DUSP22,IRF4
 
 sanders_11_ASD_discovery_cases-11133.p1
 
 
 Maternal
 Simplex (trio)
 NA
 GMDS
 
 sanders_11_ASD_discovery_cases-11216.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GMDS
 
 sanders_11_ASD_discovery_cases-12465.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FOXQ1,LINC01394,MIR6720,FOXF2,RN7SL352P,FOXCUT
 
 sanders_11_ASD_discovery_cases-12472.p1
 
 
 Paternal
 Simplex (trio)
 NA
 GMDS
 
 szatmari_07_ASD_discovery_cases-NAAR073-A1-02C09714
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 HUS1B,FOXQ1,LINC01394,MIR6720,DUSP22,FOXF2,RN7SL352P,IRF4,EXOC2
 
 szatmari_07_ASD_discovery_cases-NAAR073-A3-02C09716
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 HUS1B,FOXQ1,LINC01394,MIR6720,DUSP22,FOXF2,RN7SL352P,IRF4,EXOC2
 
 vaags_11_ASD_discovery_cases-probandF2-003
 
 
 Unknown
 Multiplex
 Unknown
 DUSP22
 
 vaags_11_ASD_replication_cases_2-probandF4-003
 
 
 Unknown
 Simplex
 Unknown
 DUSP22
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB237493_1007841091
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB407301_1007871721
 
 
  Unknown
 
 
  EXOC2
 
engchuan_15_ASD_discovery_controls-controlB446357_1007852622
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB659155_1007854741
 
 
  Unknown
 
 
  HMGN2P28,GMDS-DT,GMDS
 
engchuan_15_ASD_discovery_controls-controlB931598_1007872875
 
 
  Unknown
 
 
  DUSP22
 
engchuan_15_ASD_discovery_controls-controlHABC_900597_900597
 
 
  Unknown
 
 
  DUSP22
 
engchuan_15_ASD_discovery_controls-controlHABC_900603_900603
 
 
  Unknown
 
 
 
 
kanduri_15_ASD_discovery_controls-control_split1932
 
 
  Unknown
 
 
  LOC285768 (non-coding RNA, exonic)
 
krumm_15_ASD_discovery_controls-control11325.s1
  Illumina 1M
 
  Maternal
 
 
  HUS1B,EXOC2
 
levy_11_ASD_discovery_controls-11325.s1
 
 
  Maternal
  Simplex
  NA
  HUS1B,EXOC2
 
sanders_11_ASD_discovery_controls-11216.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GMDS
 

No Animal Model Data Available
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