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9p24.1CNV Type: Deletion-Duplication


Largest CNV size: 214075 bp

Statistics Box:
Number of Reports: 32


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.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Genome-wide characteristics of de novo mutations in autism
Deletion
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
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
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Duplication
NA
Deletion
NA
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
NA
Duplication
NA
Duplication
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 akter_23_ASD/ADHD/DD/ID_discovery_cases
  NA NA
 Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
 212
 Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
 NA
 68.40% Male
 69008
 1
 0
 1
 bacchelli_20_ASD_discovery_cases
  NA NA
 Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
 128
 Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
 N/A
 82.81% Male
 68185
 0
 1
 1
 ben-david_11_ASD_discovery_cases
 Lymphoblastoid cell lines (LCLs) from a subset of ASD subjects previously used in Yirmiya et al. 2006 AVPR1a association study.
 17
 Diagnosis of DSM IV autistic disorder (n=14) or PDD-NOS (n=3) using ADI-R and ADOS-G; average IQ 51.2 28.3
 
 70.59% Male
 129000
 0
 1
 1
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 19184
 3
 0
 3
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 275000
 1
 0
 1
 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
 316838
 19
 9
 28
 feliciano_19_ASD_discovery_cases
 ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
 465
 All cases diagnosed with ASD
 Range of age at enrollment, 1.544.6 years
 80.86% Male
 298899
 0
 1
 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
 
 
 10869
 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
 
 
 121911
 2
 0
 2
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 136276
 1
 0
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 447000
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 513157
 1
 0
 1
 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
 28647
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 211890
 1
 4
 5
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 79005
 0
 1
 1
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
 Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
 89985
 64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
 N/A
 N/A
 220636
 1
 0
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 275000
 1
 0
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 135961
 2
 1
 3
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 62293
 1
 0
 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
 59000
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 10606
 1
 0
 1
 pfundt_16_NDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1215
 Neurodevelopmental disorders
 N/A
 N/A
 43648
 0
 1
 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
 
 
 78722
 2
 0
 2
 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)
 62603
 0
 1
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 220853
 5
 1
 6
 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
 214075
 103
 13
 116
 sherman_21_ASD_discovery_cases
  NA NA
 ASD probands from the Simons Simplex Collection (n=2,594) and the SPARK cohort (n=9,483) screened for mosaic CNVs (mCNVs)
 12077
 Cohort diagnosis of ASD
 Range, 3-40+ yrs.
 NA
 492139
 0
 1
 1
 soueid_16_ASD_discovery_cases
 Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
 41
 All cases fulfilled DSM-V criteria for autism
 Range, 3-18 yrs.
 92.68% Male
 176000
 0
 1
 1
 soueid_16_DD/ID_discovery_cases
 Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 35
 Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 N/A
 N/A
 0
 0
 0
 0
 szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases
 Patients screened by chromosomal microrarray analysis (CMA) for Xp22.13 duplications involving the CDKL5 gene
 27000
 Cases with Xp22.13/CDKL5 duplications diagnosed with one or more of the following: ASD, ADHD, developmental delay (DD), intellectual disability (ID), OCD, sensory integration disorder
 N/A
 N/A
 402000
 0
 1
 1
 yamamoto_14_DD/ID/EP_discovery_cases
 Patients with microdeletions involving the 15q22.2 region presenting with neurological symptoms
 4
 Developmental delay/intellectual disability (all 4 cases), epilepsy (3 cases), and autistic features (1 case)
 Range, 3-14 yrs.
 50% Male
 1600000
 0
 1
 1
 yuan_23_ASD_discovery_cases
 ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
 369
 Cases diagnosed with ASD using DSM-IV.
 NA
 NA
 933538
 0
 1
 1
 yuen_16_ASD_discovery_cases
 Cases from unrelated trio families from a cohort of Canadian ASD families
 200
 Cases met criteria for ASD based on ADI-R, ADOS, and clinical evaluation
 N/A
 N/A
 200461
 1
 0
 1
 zhou_19_ASD_discovery_cases
 ASD probands from families recruited from training centers in Beijing and Tsingdao, China
 539
 Cases were diagnosed for ASD by ADI-R and ADOS
 4.92 1.20 years
 87.38% Male
 373000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bacchelli_20_ASD_discovery_controls
  NA NA
 Anonymized DNA samples from Italian individuals with no psychiatric disorders
 365
 Control
 N/A
 54.52% Male
 0
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 327521
 11
 5
 16
 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
 28647
 5
 0
 5
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 47589
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 373753
 0
 5
 5
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 168032
 0
 2
 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
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 239642
 0
 2
 2
 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)
 0
 0
 0
 0
 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)
 220853
 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.
 
 214075
 79
 16
 95
 sherman_21_ASD_discovery_controls
  NA NA
 Unaffected siblings of ASD probands from the Simons Simplex Collection (n=2,424) and the SPARK cohort (n=3,076) screened for mosaic CNVs (mCNVs)
 5500
 Control (unaffected siblings of ASD probands)
 Range, 3-18 yrs.
 NA
 0
 0
 0
 0
 soueid_16_ASD_discovery_controls
 Control cohort of normal participants
 37
 Control
 N/A
 51.35% Male
 0
 0
 0
 0
 yuen_16_ASD_discovery_controls
 CNVs from Database of Genomic Variants (DGV); used to reduce the false detection of de novo CNVs
 N/A
 Control
 N/A
 N/A
 0
 0
 0
 0
 zhou_19_ASD_discovery_controls
 Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
 512
 Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
 29.77 9.12 years
 76.17% Male
 N/A
 N/A
 N/A
 N/A

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 akter_23_ASD/ADHD/DD/ID_discovery_cases
  Bangladesh
 CMA
  Illumina Global Screening Array-24 BeadChip
 CNVPartition
 Illumina Genomestudio
 None
 bacchelli_20_ASD_discovery_cases
  Italian
 Solid phase hybridization
  Illumina Infinium PsychArray
 PennCNV, QuantiSNP, CNVPartition
 
 None
 ben-david_11_ASD_discovery_cases
 
 Array SNP
  Affymetrix 6.0
 Canary, PennCNV
 Affymetrix Genotyping Console
 MLPA
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 None
 gai_11_ASD_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
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 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
 
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP, solid phase hybridization
  Multiple platforms (Agilent, Affymetrix, Illumina)
 
 
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 None
 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
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 pfundt_16_NDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 
 
 sherman_21_ASD_discovery_cases
  NA
 Solid phase hybridization
  Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
 
 MoChA
 None
 soueid_16_ASD_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 soueid_16_DD/ID_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases
  N/A
 aCGH
  V8.0 OLIGO, V8.1.1 OLIGO, V8.2 OLIGO HR+SNP, V8.3 OLIGO HR+SNP, 180K, V9.1.1 OLIGO HR+SNP, 400K (Medical Genetics Laboratories at Baylor College of Medicine/Agilent)
 
 
 None
 yamamoto_14_DD/ID/EP_discovery_cases
  N/A
 aCGH
  Agilent 60K, Agilent 44K
 
 
 None
 yuan_23_ASD_discovery_cases
  China
 WES
  Illumina HiSeq
 NA
 GATK v.4.2.0.0.
 None
 yuen_16_ASD_discovery_cases
  Canada
 N/A
  High-resolution microarray platform
 
 Segseq, ERDS
 qPCR, Sanger sequencing
 zhou_19_ASD_discovery_cases
  Han Chinese
 Targeted exome sequencing
  Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
 
 XHMM v.1.0
 qPCR

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  bacchelli_20_ASD_discovery_controls
  Italian
  Solid phase hybridization
  Illumina Infinium PsychArray
  PennCNV, QuantiSNP, CNVPartition
 
  None
  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_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
  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
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 
  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
 
 
  sherman_21_ASD_discovery_controls
  NA
  Solid phase hybridization
  Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
 
  MoChA
  None
  soueid_16_ASD_discovery_controls
  Lebanon
  Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
  Affymetrix ChAS
  None
  yuen_16_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  zhou_19_ASD_discovery_controls
  Han Chinese
  Targeted exome sequencing
  Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
 
  XHMM v.1.0
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  akter_23_ASD/ADHD/DD/ID_discovery_cases-case134
  NA NA
 2.17 yrs.
 F
 Developmental delay
 Global developmental delay, feeding problems, absence of toilet training, speech delay, vomiting tendency, hyperactivity, facial dysmorphism (flat nose, Down's like eyes and body). Growth parameters: height 0.82 m, weight 10 kg, head circumference 44 cm. Family history: born to consanguineous parents.
 
 6673270
 6742277
  69008
 GRCh38
 Deletion
 No
  bacchelli_20_ASD_discovery_cases-caseAB150
  NA NA
 N/A
 M
 ASD
 Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
 
 6673285
 6741469
  68185
 GRCh38
 Duplication
 No
  ben-david_11_ASD_discovery_cases-proband26
 NA
 NA
 ASD
 NA
 NA
 5606095
 5734973
  129000
 Unknown
 Duplication
 Yes
  brandler_18_ASD_replication_cases-case3-0469-000
 N/A
 F
 ASD
 Case from MSSNG cohort
 
 5113482
 5132665
  19184
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-case3-0610-000
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 8651501
 8669024
  17524
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-caseSSC07604
 N/A
 M
 ASD
 Case from SSC_phase2 cohort
 
 8651502
 8669024
  17523
 GRCh38
 Deletion
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300137
  NA NA
 N/A
 F
 Intellectual disability
 
 Intellectual disability
 6055497
 6330726
  275230
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1232_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 8221247
 8299968
  78722
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14001_50
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5098223
 5229116
  130894
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14004_20
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5306824
 5340596
  33773
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14080_1360
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7734250
 7770942
  36693
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14158_2580
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5297563
 5335639
  38077
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14188_3120
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6970728
 7072038
  101311
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14193_3170
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7734250
 7772912
  38663
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14216_3470
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6640512
 6701530
  61019
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14239_2920
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7730729
 7770942
  40214
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14362_4760
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6640512
 6686738
  46227
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14365_4790
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7225030
 7270158
  45129
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14388_4970
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7734250
 7770942
  36693
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2286_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6602821
 6829942
  227122
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3031_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5306824
 5345673
  38850
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3541_2
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7734250
 7770942
  36693
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4369_100
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 4677454
 4730743
  53290
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4382_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7734250
 7770942
  36693
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4440_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5306824
 5340596
  33773
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4518_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7734250
 7770942
  36693
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5058_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5292257
 5335639
  43383
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5206_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7734250
 7770942
  36693
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5363_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7734250
 7770942
  36693
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6050_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5098223
 5231525
  133303
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6281_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5306824
 5345673
  38850
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6316_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 4767677
 4869801
  102125
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8438_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 4725823
 5012037
  286215
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8538_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5098223
 5229116
  130894
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8727_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6555417
 6872255
  316839
 GRCh38
 Duplication
 No
  feliciano_19_ASD_discovery_cases-caseSP0017660
 N/A
 M
 ASD
 Family history: both parents are negative for ASD and have no reported mental health diagnoses.
 
 6550803
 6849701
  298899
 GRCh38
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1678301
 
 
 Autism
 
 
 7495902
 7506770
  10869
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU062703
 
 
 Autism
 
 
 8221247
 8299968
  78722
 GRCh38
 Deletion
 No
  gai_11_ASD_replication_cases-AU062905
 
 
 Autism
 
 
 6108174
 6230084
  121911
 Unknown
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case546-3
 N/A
 F
 ASD
 ASD; no other clinical information provided
 N/A
 6518780
 6655056
  136277
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-AU2372301
 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
 6570000
 7020000
  450001
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001094
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 4970093
 5483250
  513158
 GRCh38
 Deletion
 Yes
  kanduri_15_ASD_discovery_cases-case3062
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 5306824
 5335470
  28647
 Unknown
 Deletion
 No
  krumm_15_ASD_discovery_cases-case11575.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6328595
 6331019
  2425
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12497.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 5021987
 5233877
  211891
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13487.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 4712975
 4722627
  9653
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14119.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6620183
 6721025
  100843
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14128.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6620183
 6720997
  100815
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11575.p1
 NA
 M
 ASD
 NA
 NA
 6327171
 6406175
  79005
 GRCh38
 Duplication
 No
  lionel_13_ASD/ADHD/DD/ID_discovery_cases-case14
 22 months
 M
 Anxiety disorder
 Speech/language delay, autism/autistic behavior, anxiety disorder. Dysmorphic features and congenital anomalies: no dysmorphic features by Dev Peds, generalized hypotonia, tonsils/adenoids removed, heart murmur, 3 holes in heart (healed without intervention). Family history: mother with deletion is neurotypical.
 
 8780604
 9001239
  220636
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown212
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 6055497
 6330726
  275230
 GRCh38
 Deletion
 No
  marshall_08_ASD_discovery_cases-MM0007-003
 NA
 M
 ASD
 NA
 NA
 5109530
 5245490
  135961
 GRCh38
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-MM0103-003
 NA
 M
 ASD
 Mild language delay, moderate repetitive behavior
 IQ/LOF 100
 7735283
 7770233
  34951
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-SK0270-003
 NA
 M
 ASD
 RL/EL mild/moderate delay, mild speech unintelligibility, severe repetitive behavior
 IQ/LOF 67
 7735280
 7774180
  38901
 GRCh38
 Deletion
 Yes
  mosca_16_DCD_discovery_cases-case121503
 N/A
 M
 DCD
 Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected; sibling diagnosis unaffected.
 
 7127377
 7189669
  62293
 GRCh38
 Deletion
 No
  napoli_17_ASD_discovery_cases-case15
 N/A
 M
 ASD
 Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
 
 5420412
 5479301
  58890
 GRCh38
 Deletion
 Yes
  nord_11_ASD_discovery_cases-302-1
 
 
 ASD
 
 
 6560979
 6571584
  10606
 Unknown
 Deletion
 No
  pfundt_16_NDD_discovery_cases-case69
 N/A
 N/A
 NDD
 Disease cohort: neurodevelopmental disorder. Description: GLDC duplication
 
 6558558
 6602206
  43649
 GRCh38
 Duplication
 No
  pinto_10_ASD_discovery_cases-case1232_3
 NA
 M
 ASD
 NA
 NA
 8221247
 8299968
  78722
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5058_4
 NA
 M
 ASD
 NA
 NA
 5292257
 5335639
  43383
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case03HI2575A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0943301; NDAR ID NDAR_INVKH484UV8)
 
 5123002
 5185604
  62603
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case106392
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 7296502
 7327000
  30499
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case128963
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 8772744
 8993596
  220853
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case50002
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 7082796
 7093038
  10243
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case62246-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 5089828
 5221377
  131550
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case83555L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 7723567
 7760397
  36831
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case85170L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 7723567
 7760397
  36831
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11025.p1
 4.6
 F
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11028.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 106
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11030.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11037.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 86; verbal IQ, 83
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11054.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 84
 8009428
 8021219
  11792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11098.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
 6695397
 6697128
  1732
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11101.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 57; verbal IQ, 38
 5306824
 5340596
  33773
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11106.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 51
 8009428
 8017065
  7638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11144.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
 8009428
 8025789
  16362
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11148.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 82; verbal IQ, 99
 8108652
 8161748
  53097
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11193.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
 8009428
 8017065
  7638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11250.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11251.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 84; verbal IQ, 88
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11254.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 94; verbal IQ, 48
 8009428
 8017065
  7638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11267.p1
 13.2
 F
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79
 5306824
 5335639
  28816
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11304.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 61; verbal IQ, 47
 5306824
 5335639
  28816
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11347.p1
 15.7
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11357.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 112; verbal IQ, 91
 8009428
 8017065
  7638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11368.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
 8009428
 8017065
  7638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11390.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 77; verbal IQ, 57
 5289943
 5345673
  55731
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11410.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 74; verbal IQ, 40
 5297563
 5335639
  38077
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11421.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
 8009428
 8017065
  7638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11439.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11450.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11458.p1
 16.4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126
 8009428
 8017065
  7638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11459.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 88; verbal IQ, 71
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11473.p1
 11.5
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11502.p1
 16.1
 F
 Autism
 NA
 Full-scale IQ, 154; non-verbal IQ, 148; verbal IQ, 145
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11505.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
 6673215
 6673957
  743
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11523.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 72
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11524.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 116; verbal IQ, 109
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11532.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 65; verbal IQ, 60
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11540.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
 5385783
 5402482
  16700
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11561.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 103; verbal IQ, 114
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11575.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 105; verbal IQ, 100
 6327690
 6409874
  82185
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11590.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
 8009428
 8017065
  7638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11592.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11598.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
 5385783
 5402482
  16700
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11615.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11617.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 27
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11712.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
 5300316
 5335639
  35324
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11734.p1
 13.8
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
 6064103
 6176770
  112668
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11766.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 96
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11818.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
 5385783
 5402482
  16700
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11872.p1
 7.8
 F
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 65; verbal IQ, 67
 7734250
 7770942
  36693
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11917.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 115; verbal IQ, 71
 8009428
 8017065
  7638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11919.p1
 4.1
 M
 ASD
 NA
 Full-scale IQ, 84; non-verbal IQ, 77; verbal IQ, 104
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11922.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
 8009428
 8017065
  7638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11935.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11962.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
 5132309
 5140115
  7807
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11986.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11993.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 73
 5306824
 5335639
  28816
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12010.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12019.p1
 9.1
 M
 ASD
 NA
 Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12046.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 88; verbal IQ, 87
 5306824
 5335639
  28816
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12048.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12060.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12093.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 97
 6328871
 6402856
  73986
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12113.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12139.p1
 4.3
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 106; verbal IQ, 86
 6701130
 6704772
  3643
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12149.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12189.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12220.p1
 14.4
 F
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12241.p1
 4.9
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12261.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
 5385783
 5396764
  10982
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12264.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12279.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
 5306824
 5335639
  28816
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12281.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 99; verbal IQ, 117
 5306824
 5335639
  28816
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12284.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 61
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12287.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
 5385783
 5402482
  16700
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12304.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 77
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12323.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 92
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12343.p1
 6.2
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12376.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 104
 8009428
 8017065
  7638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12378.p1
 6.2
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 84; verbal IQ, 81
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12381.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 64; verbal IQ, 79
 4750996
 4792044
  41049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12383.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 88; verbal IQ, 90
 5306824
 5335639
  28816
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12415.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 89
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12418.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
 5306824
 5335639
  28816
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12447.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 60; verbal IQ, 45
 5311171
 5335639
  24469
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12456.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 5306824
 5335639
  28816
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12478.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
 5385783
 5407628
  21846
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12497.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 63; verbal IQ, 49
 5021514
 5235589
  214076
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12566.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 43
 7285207
 7291611
  6405
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12579.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12591.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 69
 5306824
 5335639
  28816
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12637.p1
 7.3
 M
 ASD
 NA
 Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12643.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 70; verbal IQ, 40
 5385783
 5402482
  16700
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12644.p1
 10.7
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12651.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12661.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
 6695017
 6697128
  2112
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12664.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 96; verbal IQ, 89
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12701.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
 5385783
 5402482
  16700
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12739.p1
 6.8
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 112; verbal IQ, 77
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12758.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 70
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12764.p1
 15.2
 F
 ASD
 NA
 Full-scale IQ, 94; non-verbal IQ, 99; verbal IQ, 86
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12864.p1
 5.8
 F
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 65; verbal IQ, 81
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12878.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12908.p1
 5
 F
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 81; verbal IQ, 70
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12957.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12957.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
 8009428
 8017065
  7638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12960.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 52; verbal IQ, 42
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12975.p1
 10.4
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
 5306824
 5335639
  28816
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13015.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 5385783
 5410723
  24941
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13021.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 109; verbal IQ, 98
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13031.p1
 5.1
 F
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
 5317534
 5335639
  18106
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13070.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13079.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 141; verbal IQ, 128
 8009428
 8017065
  7638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13095.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13128.p1
 11
 F
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 88
 5299385
 5335639
  36255
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13150.p1
 8.1
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 50
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13162.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
 5311171
 5335639
  24469
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13168.p1
 7.9
 F
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 8009428
 8017065
  7638
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13187.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 83; verbal IQ, 86
 5318770
 5335639
  16870
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13193.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13324.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 78
 6701130
 6705824
  4695
 GRCh38
 Deletion
 No
  sherman_21_ASD_discovery_cases-SPARK_SP0018338
  NA NA
 11 yrs.
 M
 ASD
 ASD proband from the SPARK cohort. SCQ summary score: NA. Mosaic cell fraction: 0.4132. CNV occurs on the maternal haplotype.
 
 6535056
 7027194
  492139
 GRCh38
 Duplication
 No
  soueid_16_ASD_discovery_cases-caseLAS7
 N/A
 M
 Autism
 Case fulfilled DSM-V criteria for autism; no other information available
 
 5812163
 5987927
  175765
 GRCh38
 Duplication
 No
  szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case3
 9 yrs.
 M
 ASD, ADHD, ID
 Case diagnosed with Asperger syndrome, ADHD, and sensory integration disorder (based on DSM-IV criteria). Birth/neonatal history: born at 36 weeks with umbilical cord wrapped around his neck; experienced difficulty breathing and low Apgar scores. Developmental milestones: developmental regression around age of 1 year (had a few words and stopped speaking); gross motor delay consistent with sitting at 8 months and walking at 15 months. Language and communication evaluation: speech impairment; echolalia. Motor and musculoskeletal evaluation: trouble with fine motor skills, specifically with handwriting and using utensils to eat. Behavioral/psychiatric evaluation: presents with obsessive-compulsive and autistic behaviors; often flaps his hands; favors routines, patterns, lining things up, and does not like transitions; very argumentative, manifests oppositional behaviors, often gets aggressive with hitting other children and banging his own head; licks things, is sensitive to certain textures of foods, highly resistant to pain. EEG: normal. Brain imaging: normal head MRI. Dysmorphic features: mildly deeply placed eyes, mild frontal prominence, thin upper lips. Growth parameters: case is normocephalic. Family history: consistent for bipolar disorder in two maternal uncles, ADHD and learning disabilities in his brother and sister, depression in his maternal grandfather, and learning disabilities in his mother and maternal grandmother.
 Mild intellectual disability
 6575731
 6977999
  402269
 GRCh38
 Duplication
 No
  yamamoto_14_ID/EP_discovery_cases-case3
 13 yrs.
 F
 Intellectual disability and epilepsy
 Case present in DECIPHER database (DECIPHER ID #253216). Birth/neonatal history: born at 41 weeks of gestation; birth weight of 3210 g (50th-75th %ile), length of 50 cm (90th-97th %ile), and OFC of 34.4 cm (75th-90th %ile); unremarkable pregnancy and delivery. Developmental milestones: growth delay at age of 20 months (weight -2.0 SD, height -1.0 SD, OFC -2.0 SD). Language and communication evaluation: no reading or writing skills, poor language skills. Motor and musculoskeletal evaluation: dysmetria, apraxia, ataxia, intention tremor; thin and long fingers, slight clinodactyly of both index fingers. Epilpesy/seizures: experienced spasm associated with syncope and convulsive motion at 20 months of age; status epilepticus at age of 4 years despite prescription of anti-epileptic drugs; intractable complex partial epilepsy. EEG: sleep EEG showed abnormal activities in left hemisphere of brain. Brain imaging: brain MRI showed partial agenesis of the vermis. Dysmorphic features: square face, prominent forehead, short philtrum, up-slanting palpebral fissures, thin lips, pointed chin. Growth parameters: overweight; weight of 42 kg (+1.0 SD), length of 141.5 cm (-2.0 SD), and OFC of 53 cm (mean [M]).
 Severe intellectual disability (unable to accurately assess IQ)
 5420412
 7029245
  1608834
 GRCh38
 Duplication
 No
  yuan_23_ASD_discovery_cases-qma01955d000
 NA
 NA
 ASD
 Case diagnosed with ASD according to DSM-IV criteria.
 
 6241444
 7174981
  933538
 GRCh38
 Duplication
 No
  yuen_16_ASD_discovery_cases-sample2-1317-003
 N/A
 N/A
 ASD
 Case met criteria for ASD based on ADI-R, ADOS, and clinical evaluation. CNV detected in this case was not present in DGV.
 
 8782887
 8983347
  200461
 GRCh38
 Deletion
 Yes
  zhou_19_ASD_discovery_cases-caseAU051103
 N/A
 N/A
 ASD
 Diagnosis of ASD by ADI-R and ADOS.
 
 6755641
 7128286
  372646
 GRCh38
 Deletion
 Yes

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-controlB197815_1007874845
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6544734
  6872255
  327522
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB326195_1007874649
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6722102
  6771993
  49892
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB582969_1007853926
  N/A
  N/A
  Control
  No previous psychiatric history
 
  4696919
  4766022
  69104
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB596896_1007850211
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7735283
  7774180
  38898
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB771183_1007874859
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5289943
  5335639
  45697
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB828423_1007875117
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7269743
  7313773
  44031
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB834420_1007871651
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6701130
  6774846
  73717
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB953582_1007843997
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5306824
  5345673
  38850
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB994781_1007855007
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5300316
  5335639
  35324
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900352_900352
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6544734
  6872255
  327522
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900456_900456
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7734250
  7770942
  36693
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900840_900840
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7734250
  7770942
  36693
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902555_902555
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6327690
  6402856
  75167
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902644_902644
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6906384
  6947175
  40792
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902690_902690
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8218616
  8302580
  83965
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902727_902727
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5302095
  5335639
  33545
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split244
  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
 
  5306824
  5335470
  28647
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split266
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  8009428
  8014674
  5247
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split549
  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
 
  7720636
  7735283
  14648
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split631
  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
 
  7720636
  7742476
  21841
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split708
  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
 
  8009428
  8014674
  5247
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12161.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12161. SRS score of 44.
 
  5968018
  6015607
  47590
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11575.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6328595
  6331019
  2425
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12161.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  5968018
  6015607
  47590
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12497.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  4860124
  5233877
  373754
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12875.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6620183
  6720997
  100815
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14135.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  5123003
  5185602
  62600
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11575.s1
  NA
  F
  Control
  NA
  NA
  6327171
  6406175
  79005
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-12161.s1
  NA
  F
  Control
  NA
  NA
  5965995
  6134026
  168032
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C26760
 
 
  Control
 
 
  5104825
  5221049
  116225
  Unknown
  Duplication
 
  nord_11_ASD_discovery_controls-04C27574
 
 
  Control
 
 
  7278659
  7518300
  239642
  Unknown
  Duplication
 
  sanders_11_ASD_discovery_controls-11006.s1
  5.5
  M
  Control (matched sibling)
  NA
  NA
  7320871
  7328880
  8010
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11012.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  5306824
  5335639
  28816
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11028.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11069.s1
  7.4
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6715730
  14601
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11098.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  6695397
  6697128
  1732
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11101.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  5299385
  5335639
  36255
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11124.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11144.s1
  14
  F
  Control (matched sibling)
  NA
  NA
  8009428
  8017065
  7638
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11148.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  8108652
  8161748
  53097
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11229.s1
  6.1
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11250.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11251.s1
  4.9
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11254.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  8009428
  8017065
  7638
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11267.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  5306824
  5335639
  28816
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11284.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11318.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11347.s1
  17
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11355.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  5306824
  5335639
  28816
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11356.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11357.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  8009428
  8017065
  7638
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11368.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  8009428
  8017065
  7638
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11372.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  8009428
  8015061
  5634
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11374.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  5289943
  5340596
  50654
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11379.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11397.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11398.s1
  13.8
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11399.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6715730
  14601
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11410.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  5306824
  5335639
  28816
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11439.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11458.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  8009428
  8017065
  7638
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11524.s1
  17.3
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11532.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11540.s1
  14.7
  F
  Control (matched sibling)
  NA
  NA
  5385783
  5402482
  16700
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11561.s1
  8.9
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11575.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  6330380
  6402856
  72477
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11622.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11641.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11676.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11712.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  5306824
  5335639
  28816
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11716.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11740.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  7226519
  7233161
  6643
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11818.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  5384832
  5402482
  17651
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11843.s1
  16.9
  F
  Control (matched sibling)
  NA
  NA
  5306824
  5335639
  28816
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11863.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  5317534
  5335639
  18106
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11917.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  8009428
  8017065
  7638
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11920.s1
  18.3
  M
  Control (matched sibling)
  NA
  NA
  5385783
  5402482
  16700
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11993.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  5306824
  5335639
  28816
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12048.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12113.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12118.s1
  14.8
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12150.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12152.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12161.s1
  7.7
  F
  Control (matched sibling)
  NA
  NA
  5966898
  6135411
  168514
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12219.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12225.s1
  16.4
  M
  Control (matched sibling)
  NA
  NA
  5317534
  5335639
  18106
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12233.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12261.s1
  21.5
  M
  Control (matched sibling)
  NA
  NA
  5385783
  5396764
  10982
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12281.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  5297563
  5335639
  38077
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12321.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12329.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6715730
  14601
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12369.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  5306824
  5335639
  28816
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12373.s1
  11.7
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12376.s1
  14.7
  F
  Control (matched sibling)
  NA
  NA
  8009428
  8017065
  7638
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12378.s1
  4.4
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12382.s1
  12.4
  M
  Control (matched sibling)
  NA
  NA
  8009428
  8017065
  7638
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12383.s1
  12.8
  M
  Control (matched sibling)
  NA
  NA
  5306824
  5335639
  28816
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12396.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12415.s1
  16.2
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12445.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  8009428
  8017065
  7638
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12497.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  5021514
  5235589
  214076
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12510.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12534.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  6395247
  6409874
  14628
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12617.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12637.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12641.s1
  7.6
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12651.s1
  15.8
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12664.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12674.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12708.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12739.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12749.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12764.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12782.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12837.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  5385783
  5396764
  10982
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12871.s1
  17.4
  F
  Control (matched sibling)
  NA
  NA
  5306824
  5335639
  28816
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12907.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12957.s1
  13.3
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12957.s1
  13.3
  F
  Control (matched sibling)
  NA
  NA
  8009428
  8017065
  7638
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12969.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  5306824
  5335639
  28816
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13021.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13128.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  5306824
  5335639
  28816
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13135.s1
  17.1
  M
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13162.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  5311171
  5335639
  24469
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13168.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  6701130
  6705824
  4695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13187.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  5306824
  5335639
  28816
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 akter_23_ASD/ADHD/DD/ID_discovery_cases-case134
 
 
 Unknown
 
 
 RPL35AP20,PRELID3BP11,LINC02851,KDM4C
 
 bacchelli_20_ASD_discovery_cases-caseAB150
 
 
 Unknown
 Simplex
 
 LINC02851,PRELID3BP11,KDM4C
 
 ben-david_11_ASD_discovery_cases-proband26
 MLPA
 
 Paternal
 Unknown
 Unknown
 KIAA1432
 Monoallelic expression of ADARB2
 brandler_18_ASD_replication_cases-case3-0469-000
 No validation step reported
 
 Paternal
 
 
 IGHEP2,INSL6,JAK2
 
 brandler_18_ASD_replication_cases-case3-0610-000
 No validation step reported
 
 Paternal
 
 
 PTPRD
 
 brandler_18_ASD_replication_cases-caseSSC07604
 No validation step reported
 
 Maternal
 
 
 PTPRD
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300137
 
 
 Unknown
 
 
 GTF3AP1,SELENOTP1,TPD52L3,IL33
 
 engchuan_15_ASD_discovery_cases-case1232_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14001_50
 
 
 Unknown
 
 
 MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL6,JAK2,TCF3P1
 
 engchuan_15_ASD_discovery_cases-case14004_20
 
 
 Unknown
 
 
 HMGN2P31,RLN1
 
 engchuan_15_ASD_discovery_cases-case14080_1360
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14158_2580
 
 
 Unknown
 
 
 RLN2,HMGN2P31,RLN1
 
 engchuan_15_ASD_discovery_cases-case14188_3120
 
 
 Unknown
 
 
 KDM4C
 
 engchuan_15_ASD_discovery_cases-case14193_3170
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14216_3470
 
 
 Unknown
 
 
 RN7SL123P,RPS3AP54,RNF2P1,GLDC
 
 engchuan_15_ASD_discovery_cases-case14239_2920
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14362_4760
 
 
 Unknown
 
 
 RN7SL123P,RPS3AP54,RNF2P1,GLDC
 
 engchuan_15_ASD_discovery_cases-case14365_4790
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14388_4970
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case2286_1
 
 
 Unknown
 
 
 RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,GLDC,KDM4C
 
 engchuan_15_ASD_discovery_cases-case3031_4
 
 
 Unknown
 
 
 HMGN2P31,RLN1
 
 engchuan_15_ASD_discovery_cases-case3541_2
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4369_100
 
 
 Unknown
 
 
 CDC37L1-DT,CDC37L1,AK3
 
 engchuan_15_ASD_discovery_cases-case4382_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4440_1
 
 
 Unknown
 
 
 HMGN2P31,RLN1
 
 engchuan_15_ASD_discovery_cases-case4518_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5058_4
 
 
 Unknown
 
 
 RLN2,HMGN2P31,RLN1
 
 engchuan_15_ASD_discovery_cases-case5206_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5363_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6050_4
 
 
 Unknown
 
 
 MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,INSL6,JAK2,TCF3P1
 
 engchuan_15_ASD_discovery_cases-case6281_3
 
 
 Unknown
 
 
 HMGN2P31,RLN1
 
 engchuan_15_ASD_discovery_cases-case6316_4
 
 
 Unknown
 
 
 ECM1P1,KLF4P1,MIR101-2,RCL1
 
 engchuan_15_ASD_discovery_cases-case8438_202
 
 
 Unknown
 
 
 ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,AK3,RCL1,JAK2
 
 engchuan_15_ASD_discovery_cases-case8538_201
 
 
 Unknown
 
 
 MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL6,JAK2,TCF3P1
 
 engchuan_15_ASD_discovery_cases-case8727_201
 
 
 Unknown
 
 
 RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,GLDC,KDM4C
 
 feliciano_19_ASD_discovery_cases-caseSP0017660
 
 
 Paternal
 Simplex
 
 RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,LINC02851,PRELID3BP11,SNRPEP2,ACTG1P14,GLDC,KDM4C
 null
 gai_11_ASD_discovery_cases-AU1678301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU062703
 
 
 Inherited
 
 
 
 
 gai_11_ASD_replication_cases-AU062905
 
 
 Inherited
 
 
 0 genes
 
 gazzellone_14_ASD_discovery_cases-case546-3
 
 
 Unknown
 Unknown
 Unknown
 RN7SL25P,RPL23AP57,GLDC
 
 girirajan_13a_ASD_discovery_cases-AU2372301
 
 
 Unknown
 Multiplex
 Unknown
 RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,GLDC,KDM4C
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001094
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,INSL6,CD274,JAK2,TCF3P1,PLGRKT
 
 kanduri_15_ASD_discovery_cases-case3062
 
 
 Maternal
 Unknown
 Unknown
 RLN1
 
 krumm_15_ASD_discovery_cases-case11575.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TPD52L3
 
 krumm_15_ASD_discovery_cases-case12497.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,INSL6,JAK2,TCF3P1
 
 krumm_15_ASD_discovery_cases-case13487.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 AK3
 
 krumm_15_ASD_discovery_cases-case14119.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,GLDC,KDM4C
 
 krumm_15_ASD_discovery_cases-case14128.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,GLDC,KDM4C
 
 levy_11_ASD_discovery_cases-11575.p1
 
 
 Paternal
 Simplex
 Not segregated
 TPD52L3
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases-case14
 
 
 Unknown
 
 
 RNU7-185P,PTPRD-AS1,PTPRD
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown212
 
 
 Maternal
 Unknown
 Unknown
 GTF3AP1,SELENOTP1,TPD52L3,IL33
 
 marshall_08_ASD_discovery_cases-MM0007-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 MTND5P14,IGHEP2,INSL4,INSL6,JAK2,TCF3P1
 
 marshall_08_ASD_discovery_cases-MM0103-003
 qPCR, qmPCR
 
 Paternal
 Multiplex
 NA
 
 
 marshall_08_ASD_discovery_cases-SK0270-003
 qPCR, qmPCR
 
 Unknown
 Simplex
 NA
 
 
 mosca_16_DCD_discovery_cases-case121503
 
 
 Unknown
 Simplex
 Unknown
 KDM4C
 
 napoli_17_ASD_discovery_cases-case15
 RT-PCR
 
 Unknown
 
 
 CD274,PLGRKT
 
 nord_11_ASD_discovery_cases-302-1
 
 
 Paternal
 
 
 GLDC
 
 pfundt_16_NDD_discovery_cases-case69
 
 
 
 
 
 GLDC
 
 pinto_10_ASD_discovery_cases-case1232_3
 Illumina550;Affy5.0
 
 paternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5058_4
 Agilent1M
 
 maternal
 NA
 NA
 RLN2,HMGN2P31,RLN1
 
 poultney_13_ASD_discovery_cases-case03HI2575A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 INSL6,JAK2
 
 prasad_12_ASD_discovery_cases-case106392
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case128963
 
 
 Unknown
 Unknown
 Unknown
 PTPRD
 
 prasad_12_ASD_discovery_cases-case50002
 
 
 Unknown
 Unknown
 Unknown
 KDM4C
 
 prasad_12_ASD_discovery_cases-case62246-L
 
 
 Unknown
 Unknown
 Unknown
 INSL6,JAK2
 
 prasad_12_ASD_discovery_cases-case83555L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case85170L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11025.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11028.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11030.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11037.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11054.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11098.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11101.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-11106.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11144.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11148.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11193.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11250.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11251.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11254.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11267.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-11304.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-11347.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11357.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11368.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11390.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RLN2,HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-11410.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 RLN2,HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-11421.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11450.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11458.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11459.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11473.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11502.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11505.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11523.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11524.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11532.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11540.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PLGRKT
 
 sanders_11_ASD_discovery_cases-11561.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11575.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TPD52L3
 
 sanders_11_ASD_discovery_cases-11590.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11592.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11598.p1
 
 
 Paternal
 Simplex (trio)
 NA
 PLGRKT
 
 sanders_11_ASD_discovery_cases-11615.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11617.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11712.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RLN2,HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-11734.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11766.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11818.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PLGRKT
 
 sanders_11_ASD_discovery_cases-11872.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11917.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11919.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11922.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11935.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11962.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 INSL6
 
 sanders_11_ASD_discovery_cases-11986.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11993.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-12010.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12019.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12046.p1
 
 
 Paternal
 Simplex (trio)
 NA
 HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-12048.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12060.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12093.p1
 
 
 Paternal
 Simplex (trio)
 NA
 TPD52L3
 
 sanders_11_ASD_discovery_cases-12113.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12139.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12149.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12189.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12220.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12241.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12261.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PLGRKT
 
 sanders_11_ASD_discovery_cases-12264.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12279.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-12281.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-12284.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12287.p1
 
 
 Maternal
 Simplex (trio)
 NA
 PLGRKT
 
 sanders_11_ASD_discovery_cases-12304.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12323.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12343.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12376.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12378.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12381.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ECM1P1
 
 sanders_11_ASD_discovery_cases-12383.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-12415.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12418.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-12447.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-12456.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-12478.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PLGRKT
 
 sanders_11_ASD_discovery_cases-12497.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,INSL6,JAK2,TCF3P1
 
 sanders_11_ASD_discovery_cases-12566.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12579.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12591.p1
 
 
 Paternal
 Simplex (trio)
 NA
 HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-12637.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12643.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 PLGRKT
 
 sanders_11_ASD_discovery_cases-12644.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12651.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12661.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12664.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12701.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PLGRKT
 
 sanders_11_ASD_discovery_cases-12739.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12758.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12764.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12864.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12878.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12908.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12957.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12957.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12960.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12975.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-13015.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PLGRKT
 
 sanders_11_ASD_discovery_cases-13021.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13031.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RLN1
 
 sanders_11_ASD_discovery_cases-13070.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13079.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13095.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-13128.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RLN2,HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-13150.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13162.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 HMGN2P31,RLN1
 
 sanders_11_ASD_discovery_cases-13168.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13187.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RLN1
 
 sanders_11_ASD_discovery_cases-13193.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13324.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sherman_21_ASD_discovery_cases-SPARK_SP0018338
 
 
 
 
 
 GLDC,SNRPEP2,RPL23AP57,RPL35AP20,RNF2P1,ACTG1P14,RPS3AP54,PRELID3BP11,LINC02851,RN7SL123P,RN7SL25P,KDM4C
 
 soueid_16_ASD_discovery_cases-caseLAS7
 
 
 Maternal
 Simplex
 
 AK4P4,ERMP1,KIAA2026,MLANA
 
 szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case3
 
 
 Paternal
 Multi-generational
 Unknown
 RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,GLDC,KDM4C
 
 yamamoto_14_ID/EP_discovery_cases-case3
 
 
 Unknown
 
 Unknown
 AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,CD274,PDCD1LG2,RANBP6,IL33,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C
 
 yuan_23_ASD_discovery_cases-qma01955d000
 
 
 De novo
 
 
 IL33,TPD52L3,UHRF2,GLDC,SNRPEP2,RPL23AP57,SELENOTP1,RPL35AP20,RNF2P1,ACTG1P14,RPS3AP54,PRELID3BP11,LINC02851,RN7SL25P,RN7SL123P,KDM4C
 
 yuen_16_ASD_discovery_cases-sample2-1317-003
 qPCR and/or Sanger sequencing
 
 De novo
 Simplex
 Segregated
 RNU7-185P,PTPRD-AS1,PTPRD
 
 zhou_19_ASD_discovery_cases-caseAU051103
 qPCR
 
 Maternal
 
 
 ACTG1P14,KDM4C
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB197815_1007874845
 
 
  Unknown
 
 
  RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,GLDC,KDM4C
 
engchuan_15_ASD_discovery_controls-controlB326195_1007874649
 
 
  Unknown
 
 
  PRELID3BP11,SNRPEP2,KDM4C
 
engchuan_15_ASD_discovery_controls-controlB582969_1007853926
 
 
  Unknown
 
 
  CDC37L1,AK3
 
engchuan_15_ASD_discovery_controls-controlB596896_1007850211
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB771183_1007874859
 
 
  Unknown
 
 
  RLN2,HMGN2P31,RLN1
 
engchuan_15_ASD_discovery_controls-controlB828423_1007875117
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB834420_1007871651
 
 
  Unknown
 
 
  PRELID3BP11,SNRPEP2,KDM4C
 
engchuan_15_ASD_discovery_controls-controlB953582_1007843997
 
 
  Unknown
 
 
  HMGN2P31,RLN1
 
engchuan_15_ASD_discovery_controls-controlB994781_1007855007
 
 
  Unknown
 
 
  RLN2,HMGN2P31,RLN1
 
engchuan_15_ASD_discovery_controls-controlHABC_900352_900352
 
 
  Unknown
 
 
  RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,GLDC,KDM4C
 
engchuan_15_ASD_discovery_controls-controlHABC_900456_900456
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900840_900840
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902555_902555
 
 
  Unknown
 
 
  TPD52L3
 
engchuan_15_ASD_discovery_controls-controlHABC_902644_902644
 
 
  Unknown
 
 
  KDM4C
 
engchuan_15_ASD_discovery_controls-controlHABC_902690_902690
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902727_902727
 
 
  Unknown
 
 
  RLN2,HMGN2P31,RLN1
 
kanduri_15_ASD_discovery_controls-control_split244
 
 
  Unknown
 
 
  RLN1
 
kanduri_15_ASD_discovery_controls-control_split266
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, TMEM261(dist=209629),PTPRD(dist=299572)
 
kanduri_15_ASD_discovery_controls-control_split549
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, KDM4C(dist=544988),TMEM261(dist=61208)
 
kanduri_15_ASD_discovery_controls-control_split631
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, KDM4C(dist=544988),TMEM261(dist=54015)
 
kanduri_15_ASD_discovery_controls-control_split708
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, TMEM261(dist=209629),PTPRD(dist=299572)
 
krumm_13_ASD_discovery_controls-control12161.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  MIR4665,RANBP6,KIAA2026
 
krumm_15_ASD_discovery_controls-control11575.s1
  Illumina 1M
 
  Paternal
 
 
  TPD52L3
 
krumm_15_ASD_discovery_controls-control12161.s1
  Illumina 1MDuo
 
  Maternal
 
 
  MIR4665,RANBP6,KIAA2026
 
krumm_15_ASD_discovery_controls-control12497.s1
  Illumina 1MDuo
 
  Maternal
 
 
  HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,INSL6,RCL1,JAK2,TCF3P1
 
krumm_15_ASD_discovery_controls-control12875.s1
  1M-Duov3
 
  Maternal
 
 
  RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,GLDC,KDM4C
 
krumm_15_ASD_discovery_controls-control14135.s1
  Omni2.5-4v1
 
  Maternal
 
 
  INSL6,JAK2
 
levy_11_ASD_discovery_controls-11575.s1
 
 
  Paternal
  Simplex
  NA
  TPD52L3
 
levy_11_ASD_discovery_controls-12161.s1
 
 
  Maternal
  Simplex
  NA
  MIR4665,RANBP6,KIAA2026
 
nord_11_ASD_discovery_controls-04C26760
 
 
 
 
 
  INSL6,JAK2
 
nord_11_ASD_discovery_controls-04C27574
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11006.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11012.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-11028.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11069.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11098.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11101.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RLN2,HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-11124.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11144.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11148.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11229.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11250.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11251.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11254.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11267.s1
 
 
  Paternal
  Simplex (quad)
  NA
  HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-11284.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11318.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11347.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11355.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-11356.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11357.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11368.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11372.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11374.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RLN2,HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-11379.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11397.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11398.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11399.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11410.s1
 
 
  Unknown
  Simplex (quad)
  NA
  HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-11439.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11458.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11524.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11532.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11540.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PLGRKT
 
sanders_11_ASD_discovery_controls-11561.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11575.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TPD52L3
 
sanders_11_ASD_discovery_controls-11622.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11641.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11676.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11712.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-11716.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11740.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11818.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PLGRKT
 
sanders_11_ASD_discovery_controls-11843.s1
 
 
  Paternal
  Simplex (quad)
  NA
  HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-11863.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RLN1
 
sanders_11_ASD_discovery_controls-11917.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11920.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PLGRKT
 
sanders_11_ASD_discovery_controls-11993.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-12048.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12113.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12118.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12150.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12152.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12161.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR4665,RANBP6,KIAA2026
 
sanders_11_ASD_discovery_controls-12219.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12225.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RLN1
 
sanders_11_ASD_discovery_controls-12233.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12261.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PLGRKT
 
sanders_11_ASD_discovery_controls-12281.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RLN2,HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-12321.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12329.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12369.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-12373.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12376.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12378.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12382.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12383.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-12396.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12415.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12445.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12497.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,INSL6,JAK2,TCF3P1
 
sanders_11_ASD_discovery_controls-12510.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12534.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12617.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12637.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12641.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12651.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12664.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12674.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12708.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12739.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12749.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12764.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12782.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12837.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PLGRKT
 
sanders_11_ASD_discovery_controls-12871.s1
 
 
  Paternal
  Simplex (quad)
  NA
  HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-12907.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12957.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12957.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12969.s1
 
 
  Paternal
  Simplex (quad)
  NA
  HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-13021.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13128.s1
 
 
  Paternal
  Simplex (quad)
  NA
  HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-13135.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13162.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HMGN2P31,RLN1
 
sanders_11_ASD_discovery_controls-13168.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13187.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HMGN2P31,RLN1
 

No Animal Model Data Available
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