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6p22.1CNV Type: Deletion-Duplication


Largest CNV size: 292278 bp

Statistics Box:
Number of Reports: 20


Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
Deletion
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 alayadhi_16_ASD_discovery_cases
 ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
 22
 All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
 N/A
 100% Male
 43445
 4
 0
 4
 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
 301
 1
 0
 1
 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
 118340
 2
 0
 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
 237567
 14
 8
 22
 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
 
 
 68540
 1
 0
 1
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 118420
 2
 0
 2
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 9812
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 35893
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 38150
 0
 1
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 292278
 0
 1
 1
 napoli_17_ASD_discovery_cases
 Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
 133
 Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
 Mean, 6.7 3.0 years
 84.96% Male
 132000
 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
 63909
 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
 
 
 237568
 3
 2
 5
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 67081
 0
 1
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 353415
 2
 9
 11
 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
 249261
 1
 4
 5
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 234781
 0
 2
 2
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 233801
 1
 0
 1
 rosenfeld_10_non-ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 21219
 Controls (no diagnosis or indication of ASD)
 
 
 
 0
 0
 0
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 156818
 1
 0
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 74146
 16
 4
 20
 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
 448
 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
 286213
 16
 8
 24
 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
 9812
 2
 0
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 35893
 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
 39457
 1
 1
 2
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 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)
 380291
 0
 1
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 249261
 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.
 
 74146
 12
 8
 20
 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
 448
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 alayadhi_16_ASD_discovery_cases
  Saudi
 Solid phase hybridization
  Illumina HumanOmni 2.5M
 CNVPartition v.3.2.0, Penn CNV
 Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
 qPCR
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 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
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 napoli_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome 4x180K
 ADM-2
 Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
 RT-PCR
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
  Italy
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Cytogenomic Software v2.7
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 rosenfeld_10_non-ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 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
  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
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  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
  alayadhi_16_ASD_discovery_cases-caseAUT1-1
 N/A
 M
 Autism
 CARS score of 30.5; Social Responsiveness Scale (SRS) score N/A; Sensory profile score of 138.
 
 29888168
 29931612
  43445
 GRCh38
 Deletion
 Yes
  alayadhi_16_ASD_discovery_cases-caseAUT1-2
 N/A
 M
 Autism
 CARS score of 37.0; Social Responsiveness Scale (SRS) score of 76; Sensory profile score of 137.
 
 29888168
 29931612
  43445
 GRCh38
 Deletion
 Yes
  alayadhi_16_ASD_discovery_cases-caseAUT2-1
 N/A
 M
 Autism
 CARS score of 35.5; Social Responsiveness Scale (SRS) score of 74; Sensory profile score of 139.
 
 29888168
 29931612
  43445
 GRCh38
 Deletion
 Yes
  alayadhi_16_ASD_discovery_cases-caseAUT2-2
 N/A
 M
 Autism
 CARS score of 36.0; Social Responsiveness Scale (SRS) score of 76; Sensory profile score of 140.
 
 29888168
 29931612
  43445
 GRCh38
 Deletion
 Yes
  celestino-soper_11_ASD_discovery_cases-11091
 NA
 M
 ASD
 NA
 NA
 26390524
 26390825
  302
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case263
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 29887092
 30005431
  118340
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case270
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 29887092
 29951002
  63911
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13035_443
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29126919
 29193658
  66740
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13044_533
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13061_713
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29126919
 29193658
  66740
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14091_1550
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14287_1410
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20070_1331001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 26043836
 26198786
  154951
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20070_1331001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 26215574
 26251373
  35800
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20083_1374001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 26429338
 26465156
  35819
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3065_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29126919
 29193658
  66740
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3194_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 27655732
 27689868
  34137
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4540_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5262_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 26430620
 26465156
  34537
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5312_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5323_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29126919
 29201065
  74147
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5332_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 26148772
 26308089
  159318
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5332_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 26520713
 26573921
  53209
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5349_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 28446389
 28683956
  237568
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5394_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29126919
 29193658
  66740
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5521_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 26132436
 26251373
  118938
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6248_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6329_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8711_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1498302
 
 
 Autism
 
 
 28793960
 28862499
  68540
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU012503
 
 
 Autism
 
 
 29139121
 29257540
  118420
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU021503
 
 
 Autism
 
 
 26575161
 26613341
  38181
 Unknown
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case1869
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 29868053
 29877864
  9812
 Unknown
 Deletion
 No
  krumm_15_ASD_discovery_cases-case14065.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 28498274
 28534167
  35894
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-12015.p1
 NA
 M
 ASD
 NA
 NA
 26427600
 26465749
  38150
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-MM0300-003
 NA
 F
 ASD
 NA
 NA
 27751596
 28043874
  292279
 GRCh38
 Duplication
 Yes
  napoli_17_ASD_discovery_cases-case26
 N/A
 M
 ASD
 Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
 
 26312930
 26445351
  132422
 GRCh38
 Deletion
 Yes
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
 N/A
 F
 Intellectual disability and ADHD
 Developmental milestones: motor delay; language delay. Motor and musculoskeletal evaluation: dyspraxia; strabismus. Behavioral/psychiatric evaluation: ADHD; some stereotypic behaviors. Brain imaging: delayed myelination detected on brain MRI. Family history: mild cognitive impairment and langauge delay in the father's cousin's daughter; sister of his maternal grandmother developed a brain tumor.
 Mild intellectual disability (Leiter-R IQ score of 60)
 29887093
 29951002
  63910
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5262_4
 NA
 M
 Autism
 Anxiety symptoms, below average language (<1%ile), cleft palate, congenital diaphragmatic hernia, epilepsy, recurrent ear infections, short stature, alopecia in left parietal area, hypertelorism, epicanthic folds, small ears with curved pinnae, smooth philtrum, 5th finger clinodactyly, hyperextensibility, scoliosis; 16p11.2 microdeletion syndrome
 Below average nonverbal IQ (4%ile)
 26430620
 26465156
  34537
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5323_3
 NA
 M
 ASD
 NA
 NA
 29126919
 29201065
  74147
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5349_3
 NA
 M
 ASD
 NA
 NA
 28446389
 28683956
  237568
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5394_3
 NA
 M
 ASD
 NA
 NA
 29126919
 29193658
  66740
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5521_3
 NA
 M
 Autism
 Nonverbal, seizure disorder, coarse facial features
 Below average IQ (<1%ile)
 26132436
 26251373
  118938
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case18091_301
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 29116455
 29183535
  67081
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case00HI1659A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU074703; NDAR ID NDAR_INVJJ895UYV)
 
 27807524
 27893845
  86322
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case00HI1663A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU056708; NDAR ID NDAR_INVAC801FDF)
 
 29044211
 29397625
  353415
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0671A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU033403; NDAR ID NDAR_INVFP134WLL)
 
 27132368
 27147517
  15150
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0671A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU033403; NDAR ID NDAR_INVFP134WLL)
 
 27807524
 27893845
  86322
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0685A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU012503; NDAR ID NDAR_INVMG140DCU)
 
 29086305
 29174576
  88272
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case99HI0802A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055504; NDAR ID NDAR_INVXM069XZB)
 
 27807524
 27893845
  86322
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 27132368
 27147517
  15150
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 27807524
 27893845
  86322
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0868A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU002003; NDAR ID NDAR_INVXV984GE7)
 
 27807524
 27893845
  86322
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI1024A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU049303; NDAR ID NDAR_INVNH546VPM)
 
 27132368
 27147517
  15150
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI1024A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU049303; NDAR ID NDAR_INVNH546VPM)
 
 27807524
 27893845
  86322
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case117463L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 28523012
 28757690
  234679
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case47836
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 27826955
 28076215
  249261
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case58016
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 27200702
 27210250
  9549
 Unknown
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case80022
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 26849522
 27054275
  204754
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case88810
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 28722595
 28739900
  17306
 Unknown
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_221
 3 yrs.
 M
 Developmental delay
 Language delay
 Global developmental delay
 27198767
 27433547
  234781
 GRCh38
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_234
 11 yrs.
 M
 Intellectual disability and ADHD
 ADHD, TDAH, dysmorphic facial features, dextrocardia
 
 27198767
 27433547
  234781
 GRCh38
 Duplication
 No
  rosenfeld_10_ASD_discovery_cases-case23956
 NA
 NA
 ASD
 NA
 NA
 27527854
 27761655
  233801
 Unknown
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1412-0
 N/A
 N/A
 ACC-CBLH-PMG
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: unknown. Seizures: yes.
 Developmental delay: yes. Intellectual disability: unknown.
 29001153
 29157970
  156818
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11025.p1
 4.6
 F
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11055.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 19
 29126919
 29135795
  8877
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11133.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
 29577431
 29584706
  7276
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11229.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
 28051166
 28054470
  3305
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11234.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 115
 28056644
 28060612
  3969
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11327.p1
 11.3
 M
 ASD
 NA
 Full-scale IQ, 84; non-verbal IQ, 86; verbal IQ, 83
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11360.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
 27687785
 27692729
  4945
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11376.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
 27664802
 27689868
  25067
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11575.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 105; verbal IQ, 100
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11629.p1
 17.6
 M
 Autism
 NA
 Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11797.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 116
 27189628
 27193396
  3769
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11910.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 113
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12015.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 92; verbal IQ, 60
 26430620
 26460493
  29874
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 28867475
 28872102
  4628
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12417.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
 29577431
 29584084
  6654
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12481.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 47; verbal IQ, 37
 29126919
 29201065
  74147
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12600.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 69
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13060.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
 29126919
 29193658
  66740
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13266.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
 27655732
 27689868
  34137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13322.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
 29180842
 29249737
  68896
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case242
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 29868964
 29869411
  448
 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-control110036011559_r
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB180587_1007874633
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB205233_1007874827
  N/A
  N/A
  Control
  No previous psychiatric history
 
  26026907
  26313120
  286214
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB247542_1007853676
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29258018
  29290190
  32173
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB268450_1007841414
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB326674_1007853788
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB456798_1007854143
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB822754_0057061009
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB855930_1007853688
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB883531_1007844959
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB900846_1007844887
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB931866_1007873677
  N/A
  N/A
  Control
  No previous psychiatric history
 
  26429338
  26464561
  35224
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB948702_1007854260
  N/A
  N/A
  Control
  No previous psychiatric history
 
  26645473
  26679071
  33599
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB950801_1007853751
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900152_900152
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900364_900364
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29121038
  29193658
  72621
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900367_900367
  N/A
  N/A
  Control
  No previous psychiatric history
 
  27515481
  27633808
  118328
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900443_900443
  N/A
  N/A
  Control
  No previous psychiatric history
 
  26428614
  26464414
  35801
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900606_900606
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900633_900633
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900804_900804
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900902_900902
  N/A
  N/A
  Control
  No previous psychiatric history
 
  26429338
  26465156
  35819
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901141_901141
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902646_902646
  N/A
  N/A
  Control
  No previous psychiatric history
 
  26429338
  26464414
  35077
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1183
  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
 
  29868053
  29877864
  9812
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1459
  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
 
  29877864
  29881038
  3175
  Unknown
  Deletion
  No
  krumm_15_ASD_discovery_controls-control14065.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  28498274
  28534167
  35894
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-12015.s1
  NA
  F
  Control
  NA
  NA
  26427600
  26465749
  38150
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-12015.s1
  NA
  F
  Control
  NA
  NA
  26466770
  26506226
  39457
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C39975A
  N/A
  F
  Control
  NIMH Control (NIMH ID 60260)
 
  28994999
  29375289
  380291
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11040.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  27207517
  27240386
  32870
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11055.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  29126919
  29135795
  8877
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11067.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  27664802
  27689868
  25067
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11098.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  28800921
  28870852
  69932
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11234.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  28052174
  28060612
  8439
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11290.s1
  13.4
  F
  Control (matched sibling)
  NA
  NA
  29577431
  29584084
  6654
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11327.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11349.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  27664802
  27689868
  25067
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11353.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  27664802
  27692729
  27928
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11376.s1
  23.8
  F
  Control (matched sibling)
  NA
  NA
  27664802
  27692729
  27928
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11432.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  29126919
  29201065
  74147
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11575.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11629.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11818.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  29135084
  29193658
  58575
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12015.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  26429338
  26460493
  31156
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12015.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  26463347
  26505134
  41788
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12356.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  29577431
  29584706
  7276
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12782.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  29577431
  29584084
  6654
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13039.s1
  4.5
  M
  Control (matched sibling)
  NA
  NA
  29126919
  29193658
  66740
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13266.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  27655732
  27689868
  34137
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 alayadhi_16_ASD_discovery_cases-caseAUT1-1
 qPCR
 
 Paternal
 Multiplex
 
 HLA-H,HLA-T,DDX39BP1,MCCD1P1,HCG4B,HLA-K
 
 alayadhi_16_ASD_discovery_cases-caseAUT1-2
 qPCR
 
 Paternal
 Multiplex
 
 HLA-H,HLA-T,DDX39BP1,MCCD1P1,HCG4B,HLA-K
 
 alayadhi_16_ASD_discovery_cases-caseAUT2-1
 qPCR
 
 Paternal
 Multiplex
 
 HLA-H,HLA-T,DDX39BP1,MCCD1P1,HCG4B,HLA-K
 
 alayadhi_16_ASD_discovery_cases-caseAUT2-2
 qPCR
 
 Paternal
 Multiplex
 
 HLA-H,HLA-T,DDX39BP1,MCCD1P1,HCG4B,HLA-K
 
 celestino-soper_11_ASD_discovery_cases-11091
 
 
 Unknown
 Simplex
 NA
 BTN2A2
 
 cucinotta_23_ASD_discovery_cases-case263
 
 
 Both parents
 
 
 ZNRD1ASP,HCG4B,HLA-A,HLA-H,HLA-K,HLA-W,HLA-U,HLA-T,DDX39BP1,MCCD1P1,DDX39BP2,MCCD1P2,MICD,HCG9
 
 cucinotta_23_ASD_discovery_cases-case270
 
 
 Maternal
 
 
 HCG4B,HLA-A,HLA-H,HLA-K,HLA-U,HLA-T,DDX39BP1,MCCD1P1
 
 engchuan_15_ASD_discovery_cases-case13035_443
 
 
 Unknown
 
 
 OR2J2,OR2J4P
 
 engchuan_15_ASD_discovery_cases-case13044_533
 
 
 Unknown
 
 
 OR2J2,OR2J4P
 
 engchuan_15_ASD_discovery_cases-case13061_713
 
 
 Unknown
 
 
 OR2J2,OR2J4P
 
 engchuan_15_ASD_discovery_cases-case14091_1550
 
 
 Unknown
 
 
 OR2J2,OR2J4P
 
 engchuan_15_ASD_discovery_cases-case14287_1410
 
 
 Unknown
 
 
 OR2J2,OR2J4P
 
 engchuan_15_ASD_discovery_cases-case20070_1331001
 
 
 Unknown
 
 
 HIST1H2APS5,HIST1H3C,HIST1H1C,HFE,HIST1H4C,HIST1H1T,HIST1H1E,LARP1P1,HIST1H4D,HIST1H1PS1,HIST1H3D,HIST1H2BC,HIST1H2AC,HIST1H2BD,HIST1H2BE
 
 engchuan_15_ASD_discovery_cases-case20070_1331001
 
 
 Unknown
 
 
 HIST1H2BG,HIST1H2AE,HIST1H3E,HIST1H2APS3,HIST1H1D,HIST1H4F,HIST1H4G,HIST1H3F
 
 engchuan_15_ASD_discovery_cases-case20083_1374001
 
 
 Unknown
 
 
 BTN2A3P,BTN3A3,BTN2A1
 
 engchuan_15_ASD_discovery_cases-case3065_5
 
 
 Unknown
 
 
 OR2J2,OR2J4P
 
 engchuan_15_ASD_discovery_cases-case3194_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4540_1
 
 
 Unknown
 
 
 OR2J2,OR2J4P
 
 engchuan_15_ASD_discovery_cases-case5262_4
 
 
 Unknown
 
 
 BTN2A3P,BTN3A3,BTN2A1
 
 engchuan_15_ASD_discovery_cases-case5312_3
 
 
 Unknown
 
 
 OR2J2,OR2J4P
 
 engchuan_15_ASD_discovery_cases-case5323_3
 
 
 Unknown
 
 
 OR2J2,OR2J4P
 
 engchuan_15_ASD_discovery_cases-case5332_3
 
 
 Unknown
 
 
 HIST1H1E,LARP1P1,HIST1H4D,HIST1H1PS1,HIST1H3D,HIST1H2AD,HIST1H2BF,HIST1H4E,HIST1H2BG,HIST1H2AE,HIST1H3E,HIST1H2APS3,HIST1H1D,HIST1H4F,HIST1H4G,HIST1H3F,HIST1H2BH,HIST1H3G,HIST1H2APS4,HIST1H2BI,HIST1H2BD,HIST1H2BE,HIST1H4H
 
 engchuan_15_ASD_discovery_cases-case5332_3
 
 
 Unknown
 
 
 HCG11,HMGN4
 
 engchuan_15_ASD_discovery_cases-case5349_3
 
 
 Unknown
 
 
 COX11P1,OR2E1P,GPX5,LINC00533,GPX6,ZBED9
 
 engchuan_15_ASD_discovery_cases-case5394_3
 
 
 Unknown
 
 
 OR2J2,OR2J4P
 
 engchuan_15_ASD_discovery_cases-case5521_3
 
 
 Unknown
 
 
 HIST1H1E,LARP1P1,HIST1H4D,HIST1H1PS1,HIST1H3D,HIST1H2AD,HIST1H2BF,HIST1H4E,HIST1H2BG,HIST1H2AE,HIST1H3E,HIST1H2APS3,HIST1H1D,HIST1H4F,HIST1H4G,HIST1H3F,HIST1H2AC,HIST1H2BD,HIST1H2BE
 
 engchuan_15_ASD_discovery_cases-case6248_3
 
 
 Unknown
 
 
 OR2J2,OR2J4P
 
 engchuan_15_ASD_discovery_cases-case6329_3
 
 
 Unknown
 
 
 OR2J2,OR2J4P
 
 engchuan_15_ASD_discovery_cases-case8711_201
 
 
 Unknown
 
 
 OR2J2,OR2J4P
 
 gai_11_ASD_discovery_cases-AU1498302
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU012503
 
 
 Inherited
 
 
 OR2B3, OR2J3, OR2J2
 
 gai_11_ASD_replication_cases-AU021503
 
 
 Inherited
 
 
 BTN2A1, BTN1A1
 
 kanduri_15_ASD_discovery_cases-case1869
 
 
 De novo
 Unknown
 Unknown
 Intergenic CNV: nearest genes, HLA-H(dist=9196),HCG4B(dist=14505)
 
 krumm_15_ASD_discovery_cases-case14065.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GPX5,GPX6
 
 levy_11_ASD_discovery_cases-12015.p1
 
 
 Paternal
 Simplex
 Not segregated
 BTN2A3P,BTN3A3,BTN2A1
 
 marshall_08_ASD_discovery_cases-MM0300-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 RSL24D1P1,HIST1H4PS1,HIST1H2BL,HIST1H2AI,HIST1H3H,HIST1H2AJ,HIST1H2BM,HIST1H4J,HIST1H4K,HIST1H2AK,HIST1H2BPS2,HIST1H2AL,HIST1H1B,HIST1H3I,HIST1H4L,HIST1H3J,HIST1H2AM,HIST1H2BO,RNU7-26P,OR2B2,OR2W6P,OR2B6,RPLP2P1,OR2W4P,IQCB2P,OR2W2P,HIST1H2BN
 
 napoli_17_ASD_discovery_cases-case26
 RT-PCR
 
 Maternal
 
 
 HIST1H3PS1,BTN3A2,BTN2A2,BTN3A1,BTN2A3P,BTN3A3
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
 
 
 Maternal
 Multi-generational
 Unknown
 HLA-H,HLA-T,DDX39BP1,MCCD1P1,HCG4B,HLA-K,HLA-U,HLA-A
 
 pinto_10_ASD_discovery_cases-case5262_4
 Agilent1M
 
 paternal
 Simplex
 NA
 BTN2A3P,BTN3A3,BTN2A1
 
 pinto_10_ASD_discovery_cases-case5323_3
 Agilent1M
 
 paternal
 NA
 NA
 OR2J2,OR2J4P
 
 pinto_10_ASD_discovery_cases-case5349_3
 Agilent1M
 
 paternal
 NA
 NA
 COX11P1,OR2E1P,GPX5,LINC00533,GPX6,ZBED9
 
 pinto_10_ASD_discovery_cases-case5394_3
 Agilent1M
 
 maternal
 NA
 NA
 OR2J2,OR2J4P
 
 pinto_10_ASD_discovery_cases-case5521_3
 qPCR-Maternal
 
 maternal
 Simplex
 NA
 HIST1H1E,LARP1P1,HIST1H4D,HIST1H1PS1,HIST1H3D,HIST1H2AD,HIST1H2BF,HIST1H4E,HIST1H2BG,HIST1H2AE,HIST1H3E,HIST1H2APS3,HIST1H1D,HIST1H4F,HIST1H4G,HIST1H3F,HIST1H2AC,HIST1H2BD,HIST1H2BE
 
 pinto_14_ASD_discovery_cases2-case18091_301
 qPCR
 
 Maternal
 Multiplex
 Segregated (CNV also present in affected sibling)
 OR2J2,OR2J4P
 
 poultney_13_ASD_discovery_cases-case00HI1659A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HIST1H2BL,HIST1H2AI,HIST1H3H,HIST1H2AJ,HIST1H2BM,HIST1H4J,HIST1H4K,HIST1H2AK,HIST1H2BPS2,HIST1H2AL,HIST1H1B,HIST1H3I,HIST1H4L,HIST1H3J,HIST1H2AM,HIST1H2BO,HIST1H2BN
 
 poultney_13_ASD_discovery_cases-case00HI1663A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 OR2W1,OR2P1P,SAR1AP1,OR2B3,OR2J1,OR2J2,OR2J4P,OR2G1P,OR2U1P,OR2U2P,DDX6P1,OR12D3,OR12D2,OR2J3,OR14J1,OR5V1
 
 poultney_13_ASD_discovery_cases-case99HI0671A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HIST1H2AG,HIST1H4I,HIST1H2BK,HIST1H2AH,HIST1H2BJ
 
 poultney_13_ASD_discovery_cases-case99HI0671A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HIST1H2BL,HIST1H2AI,HIST1H3H,HIST1H2AJ,HIST1H2BM,HIST1H4J,HIST1H4K,HIST1H2AK,HIST1H2BPS2,HIST1H2AL,HIST1H1B,HIST1H3I,HIST1H4L,HIST1H3J,HIST1H2AM,HIST1H2BO,HIST1H2BN
 
 poultney_13_ASD_discovery_cases-case99HI0685A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 OR2B3,OR2J1,OR2J2,OR2J3
 
 poultney_13_ASD_discovery_cases-case99HI0802A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HIST1H2BL,HIST1H2AI,HIST1H3H,HIST1H2AJ,HIST1H2BM,HIST1H4J,HIST1H4K,HIST1H2AK,HIST1H2BPS2,HIST1H2AL,HIST1H1B,HIST1H3I,HIST1H4L,HIST1H3J,HIST1H2AM,HIST1H2BO,HIST1H2BN
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HIST1H2AG,HIST1H4I,HIST1H2BK,HIST1H2AH,HIST1H2BJ
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HIST1H2BL,HIST1H2AI,HIST1H3H,HIST1H2AJ,HIST1H2BM,HIST1H4J,HIST1H4K,HIST1H2AK,HIST1H2BPS2,HIST1H2AL,HIST1H1B,HIST1H3I,HIST1H4L,HIST1H3J,HIST1H2AM,HIST1H2BO,HIST1H2BN
 
 poultney_13_ASD_discovery_cases-case99HI0868A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HIST1H2BL,HIST1H2AI,HIST1H3H,HIST1H2AJ,HIST1H2BM,HIST1H4J,HIST1H4K,HIST1H2AK,HIST1H2BPS2,HIST1H2AL,HIST1H1B,HIST1H3I,HIST1H4L,HIST1H3J,HIST1H2AM,HIST1H2BO,HIST1H2BN
 
 poultney_13_ASD_discovery_cases-case99HI1024A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HIST1H2AG,HIST1H4I,HIST1H2BK,HIST1H2AH,HIST1H2BJ
 
 poultney_13_ASD_discovery_cases-case99HI1024A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HIST1H2BL,HIST1H2AI,HIST1H3H,HIST1H2AJ,HIST1H2BM,HIST1H4J,HIST1H4K,HIST1H2AK,HIST1H2BPS2,HIST1H2AL,HIST1H1B,HIST1H3I,HIST1H4L,HIST1H3J,HIST1H2AM,HIST1H2BO,HIST1H2BN
 
 prasad_12_ASD_discovery_cases-case117463L
 
 
 Unknown
 Simplex
 Unknown
 SCAND3,GPX5,GPX6
 
 prasad_12_ASD_discovery_cases-case47836
 
 
 Unknown
 Unknown
 Unknown
 HIST1H2BO,HIST1H4K,HIST1H4J,OR2B2,HIST1H4L,HIST1H2AM,HIST1H2AL,OR2B6,HIST1H2AI,HIST1H3J,HIST1H2AK,HIST1H2AJ,HIST1H2BL,HIST1H2BM,HIST1H3H,HIST1H3I,HIST1H2BN,HIST1H1B
 
 prasad_12_ASD_discovery_cases-case58016
 qPCR
 
 Paternal
 Unknown
 Unknown
 HIST1H2AG,HIST1H2BJ
 
 prasad_12_ASD_discovery_cases-case80022
 
 
 Unknown
 Unknown
 Unknown
 GUSBL1,NCRNA00240
 
 prasad_12_ASD_discovery_cases-case88810
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 quintela_17_DD/ID_discovery_cases-caseID_221
 
 
 Unknown
 
 Unknown
 RPL10P2,PRSS16,VN1R10P,ZNF204P,MCFD2P1,POM121L2,ZNF391
 
 quintela_17_DD/ID_discovery_cases-caseID_234
 
 
 Unknown
 
 Unknown
 RPL10P2,PRSS16,VN1R10P,ZNF204P,MCFD2P1,POM121L2,ZNF391
 
 rosenfeld_10_ASD_discovery_cases-case23956
 FISH
 
 Unknown
 Unknown
 Unknown
 ZNF184
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1412-0
 qPCR
 
 Paternal
 Unknown
 Unknown
 OR2AD1P,OR2W1,OR2P1P,SAR1AP1,OR2B3,OR2J1,ZNF311,OR2J3
 
 sanders_11_ASD_discovery_cases-11025.p1
 
 
 Maternal
 Simplex (trio)
 NA
 OR2J2,OR2J4P
 
 sanders_11_ASD_discovery_cases-11055.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11133.p1
 
 
 Maternal
 Simplex (trio)
 NA
 TMEM183AP1,SNORD32B,RPL13AP,GABBR1
 
 sanders_11_ASD_discovery_cases-11229.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR2B8P
 
 sanders_11_ASD_discovery_cases-11234.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11327.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR2J2,OR2J4P
 
 sanders_11_ASD_discovery_cases-11360.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11376.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11575.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR2J2,OR2J4P
 
 sanders_11_ASD_discovery_cases-11629.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR2J2,OR2J4P
 
 sanders_11_ASD_discovery_cases-11797.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11910.p1
 
 
 Paternal
 Simplex (trio)
 NA
 OR2J2,OR2J4P
 
 sanders_11_ASD_discovery_cases-12015.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 BTN2A3P,BTN3A3,BTN2A1
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12417.p1
 
 
 Paternal
 Simplex (trio)
 NA
 TMEM183AP1,SNORD32B,RPL13AP,GABBR1
 
 sanders_11_ASD_discovery_cases-12481.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR2J2,OR2J4P
 
 sanders_11_ASD_discovery_cases-12600.p1
 
 
 Maternal
 Simplex (trio)
 NA
 OR2J2,OR2J4P
 
 sanders_11_ASD_discovery_cases-13060.p1
 
 
 Paternal
 Simplex (trio)
 NA
 OR2J2,OR2J4P
 
 sanders_11_ASD_discovery_cases-13266.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13322.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR2J4P,OR2G1P
 
 yin_16_ASD_discovery_cases-case242
 
 
 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-control110036011559_r
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlB180587_1007874633
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlB205233_1007874827
 
 
  Unknown
 
 
  HIST1H4B,HIST1H3B,HIST1H2AB,HIST1H2BB,HIST1H2APS5,HIST1H3C,HIST1H1C,HFE,HIST1H4C,HIST1H1T,HIST1H1E,LARP1P1,HIST1H4D,HIST1H1PS1,HIST1H3D,HIST1H2AD,HIST1H2BF,HIST1H4E,HIST1H2BG,HIST1H2AE,HIST1H3E,HIST1H2APS3,HIST1H1D,HIST1H4F,HIST1H4G,HIST1H3F,HIST1H2BH,HIST1H3G,HIST1H2APS4,HIST1H2BI,HIST1H2BC,HIST1H2AC,HIST1H2BD,HIST1H2BE,HIST1H4H
 
engchuan_15_ASD_discovery_controls-controlB247542_1007853676
 
 
  Unknown
 
 
  OR2U1P,OR2U2P
 
engchuan_15_ASD_discovery_controls-controlB268450_1007841414
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlB326674_1007853788
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlB456798_1007854143
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlB822754_0057061009
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlB855930_1007853688
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlB883531_1007844959
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlB900846_1007844887
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlB931866_1007873677
 
 
  Unknown
 
 
  BTN2A3P,BTN3A3,BTN2A1
 
engchuan_15_ASD_discovery_controls-controlB948702_1007854260
 
 
  Unknown
 
 
  ZNF322
 
engchuan_15_ASD_discovery_controls-controlB950801_1007853751
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlHABC_900152_900152
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlHABC_900364_900364
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlHABC_900367_900367
 
 
  Unknown
 
 
  HNRNPA1P1,CD83P1,RNU6-471P
 
engchuan_15_ASD_discovery_controls-controlHABC_900443_900443
 
 
  Unknown
 
 
  BTN2A3P,BTN3A3,BTN2A1
 
engchuan_15_ASD_discovery_controls-controlHABC_900606_900606
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlHABC_900633_900633
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlHABC_900804_900804
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlHABC_900902_900902
 
 
  Unknown
 
 
  BTN2A3P,BTN3A3,BTN2A1
 
engchuan_15_ASD_discovery_controls-controlHABC_901141_901141
 
 
  Unknown
 
 
  OR2J2,OR2J4P
 
engchuan_15_ASD_discovery_controls-controlHABC_902646_902646
 
 
  Unknown
 
 
  BTN2A3P,BTN3A3,BTN2A1
 
kanduri_15_ASD_discovery_controls-control_split1183
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, HLA-H(dist=9196),HCG4B(dist=14505)
 
kanduri_15_ASD_discovery_controls-control_split1459
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, HLA-H(dist=19007),HCG4B(dist=11331)
 
krumm_15_ASD_discovery_controls-control14065.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GPX5,GPX6
 
levy_11_ASD_discovery_controls-12015.s1
 
 
  Paternal
  Simplex
  NA
  BTN2A3P,BTN3A3,BTN2A1
 
levy_11_ASD_discovery_controls-12015.s1
 
 
  Maternal
  Simplex
  NA
  BTN1A1,BTN2A1
 
poultney_13_ASD_discovery_controls-control05C39975A
 
 
  Unknown
 
 
  OR2AD1P,OR2W1,OR2P1P,SAR1AP1,OR2B3,OR2J1,OR2J2,OR2J4P,OR2G1P,OR2U1P,OR2U2P,DDX6P1,OR12D3,ZNF311,OR2J3,OR14J1,OR5V1
 
sanders_11_ASD_discovery_controls-11040.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPL10P2
 
sanders_11_ASD_discovery_controls-11055.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11067.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11098.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01623,RPL13P
 
sanders_11_ASD_discovery_controls-11234.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR2B8P
 
sanders_11_ASD_discovery_controls-11290.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TMEM183AP1,SNORD32B,RPL13AP,GABBR1
 
sanders_11_ASD_discovery_controls-11327.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR2J2,OR2J4P
 
sanders_11_ASD_discovery_controls-11349.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11353.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11376.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11432.s1
 
 
  Both parents
  Simplex (quad)
  NA
  OR2J2,OR2J4P
 
sanders_11_ASD_discovery_controls-11575.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR2J2,OR2J4P
 
sanders_11_ASD_discovery_controls-11629.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR2J2,OR2J4P
 
sanders_11_ASD_discovery_controls-11818.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR2J2,OR2J4P
 
sanders_11_ASD_discovery_controls-12015.s1
 
 
  Paternal
  Simplex (quad)
  NA
  BTN2A3P,BTN3A3,BTN2A1
 
sanders_11_ASD_discovery_controls-12015.s1
 
 
  Maternal
  Simplex (quad)
  NA
  BTN1A1,BTN2A1
 
sanders_11_ASD_discovery_controls-12356.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TMEM183AP1,SNORD32B,RPL13AP,GABBR1
 
sanders_11_ASD_discovery_controls-12782.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TMEM183AP1,SNORD32B,RPL13AP,GABBR1
 
sanders_11_ASD_discovery_controls-13039.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR2J2,OR2J4P
 
sanders_11_ASD_discovery_controls-13266.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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