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11p15.4CNV Type: Deletion-Duplication


Largest CNV size: 691642 bp

Statistics Box:
Number of Reports: 33



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 1142
 1
 0
 1
 chilian_13_DD/ID_discovery_cases
 Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
 1
 Severe DD/ID, language impairment, behavioral abnormalities
 5 yrs.
 Male
 19765
 0
 1
 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
 691641
 10
 3
 13
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 542
 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
 
 
 138890
 2
 0
 2
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 51462
 3
 0
 3
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 21830
 0
 1
 1
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 441522
 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
 269000
 1
 0
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 370325
 1
 0
 1
 gregory_09_ASD_discovery_cases
 Probands from multiplex autism families
 119
 Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
 
 78.15% Male
 320269
 1
 0
 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
 4101313
 0
 2
 2
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 34647
 2
 0
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 185886
 9
 3
 12
 larson_17_ASD_discovery_cases
  NA NA
 Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
 116
 All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
 N/A
 N/A
 60331
 0
 1
 1
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 900000
 0
 2
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 143587
 3
 3
 6
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 21060
 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
 
 
 683682
 2
 0
 2
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 5000
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 2285768
 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
 
 
 691642
 1
 1
 2
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 59827
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 280875
 1
 3
 4
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 697500
 10
 3
 13
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 224453
 1
 0
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 103353
 2
 0
 2
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 252853
 33
 53
 86
 sato_12_ASD_discovery_cases_1
 Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
 1614
 Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
 NA
 78.07% Male
 23363
 0
 2
 2
 sato_12_ASD_discovery_cases_2
 Three additional affected males from four-generation family with ASD/BAP
 3
 Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
 Range, 5 yrs. 8 mos.-95 yrs.
 100% Male
 28122
 0
 1
 1
 tropeano_16_ASD_discovery_cases
 ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
 90
 Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
 Adult age (20 yrs.+)
 N/A
 212812
 0
 1
 1
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 11062
 1
 0
 1
 wang_18_TS_discovery_cases
 Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
 789
 Probands diagnosed with Tourette syndrome
 N/A
 80.57% Male
 684062
 0
 1
 1
 wintle_10_ASD_discovery_cases
 Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
 34
 26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
 Mean, 25.97 18.93
 73.53% Male
 49800
 0
 1
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 202507
 1
 7
 8

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 362947
 9
 8
 17
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 441522
 0
 0
 0
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 0
 0
 0
 0
 gregory_09_ASD_discovery_controls
 Samples from 27 sex-mismatched hybridizations
 54
 Controls
 
 50% Male
 320269
 0
 0
 0
 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
 21053
 1
 1
 2
 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
 34647
 4
 0
 4
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 131885
 6
 2
 8
 larson_17_ASD_discovery_controls
  NA NA
 Entries listed in the Database of Genomic Variants (up to October 2017)
 N/A
 Control
 N/A
 N/A
 60331
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 143587
 3
 3
 6
 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.
 
 99256
 1
 0
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 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)
 697500
 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.
 
 143030
 23
 28
 51
 wintle_10_ASD_discovery_controls_2
 Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data
 2357
 Controls
 
 51.3% Male
 49800
 0
 0
 0
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 202507
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 chilian_13_DD/ID_discovery_cases
  Germany
 aCGH
  Agilent Human Genome CGH Microarray 244A
 
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 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_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 gregory_09_ASD_discovery_cases
 
 aCGH
  BACs aCGH
 BioDiscovery RSA
 Bluefuse, Nexus
 aCGH
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 larson_17_ASD_discovery_cases
  United Kingdom
 Array SNP
  Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
 SNP-FASST2 Segmentation
 Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
 None
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 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
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sato_12_ASD_discovery_cases_1
  Canadian (n=1158) and European (n=456)
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
 DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
 
 None
 sato_12_ASD_discovery_cases_2
  Canadian
 aCGH
  Agilent SurePrint G3 Human CGH 1x1M
 DNA Analytics, CBS/DNAcopy
 
 None
 tropeano_16_ASD_discovery_cases
  United Kingdom
 aCGH
  Agilent 60K
 ADM-2
 Agilent Feature Extraction, Agilent Genomic Workbench
 MLPA, aCGH
 vaags_11_ASD_discovery_cases
  Canadian
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
 
 
 None
 wang_18_TS_discovery_cases
  N/A
 WES
  Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
 
 CoNIFER
 qPCR
 wintle_10_ASD_discovery_cases
  31 European, 2 East Asian, 1 African
 Array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Human 1M-duo
 PennCNV, Birdsuite, iPattern
 QuantiSNP, Affymetrix Genotyping Console
 Solid phase hybridization
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  gregory_09_ASD_discovery_controls
 
  aCGH
  BACs aCGH
  BioDiscovery RSA
  Bluefuse, Nexus
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  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
 
 
  wintle_10_ASD_discovery_controls_2
  99% European
  N/A
  N/A
  N/A
  N/A
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  celestino-soper_11_ASD_discovery_cases-11399
 NA
 M
 ASD
 NA
 NA
 9090902
 9092044
  1143
 GRCh38
 Deletion
 No
  chilian_13_DD/ID_discovery_cases-case1
 5 yrs.
 M
 Developmental delay/intellectual disability
 Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
 Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
 5764670
 5784435
  19766
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1240_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 2882780
 2952650
  69871
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14164_2680
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 4225390
 4355975
  130586
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case21012_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6830070
 6889896
  59827
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3068_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 4709950
 4745713
  35764
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3580_2
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 4785476
 4888994
  103519
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4162_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 4268493
 4577991
  309499
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4461_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5399679
 5476569
  76891
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4523_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5076572
 5188362
  111791
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5324_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 10000244
 10691885
  691642
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6180_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5145895
 5236470
  90576
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6225_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5399679
 5445546
  45868
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6332_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5981590
 6030581
  48992
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6400_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 4561799
 4668512
  106714
 GRCh38
 Deletion
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000004
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S7
 N/A
 9500881
 9501423
  543
 GRCh38
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1502301
 
 
 Autism
 
 
 7751300
 7890189
  138890
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1502302
 
 
 Autism
 
 
 7751300
 7890189
  138890
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU065404
 
 
 Autism
 
 
 6739977
 6767100
  27124
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU0965301
 
 
 Autism
 
 
 6712358
 6763819
  51462
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU0965302
 
 
 Autism
 
 
 6712358
 6763819
  51462
 Unknown
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case609-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 10494204
 10516034
  21831
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si185
 11
 M
 Autism
 ADOS score: 6. Vineland composite score: 78.
 No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 89; Non-verbal IQ, 90.
 5323241
 5764763
  441523
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-13951.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 4242194
 4512194
  270001
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-46805104136
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 9134192
 9504517
  370326
 GRCh38
 Deletion
 No
  gregory_09_ASD_discovery_cases-19991875
 NA
 
 ASD
 NA
 NA
 4315257
 4635526
  320270
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002338
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 5593209
 6447002
  853794
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004230
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 3745061
 7846057
  4100997
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case11180.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 11180. SRS score N/A.
 Full-scale IQ (FSIQ) score of 27.
 4848236
 4882883
  34648
 GRCh38
 Deletion
 No (not tested)
  krumm_13_ASD_discovery_cases-case11569.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 11569. SRS score of 90.
 Full-scale IQ (FSIQ) score of 59.
 5840955
 5857702
  16748
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11571.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 5777659
 5788816
  11158
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11773.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 5777659
 5788816
  11158
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12118.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 4385284
 4390409
  5126
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12121.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 4989647
 4992242
  2596
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12494.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 7665373
 7796942
  131570
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12698.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 7234751
 7420637
  185887
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12715.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 3639002
 3723455
  84454
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13150.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 5777659
 5788816
  11158
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13764.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6768006
 6785990
  17985
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14042.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6431210
 6458296
  27087
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14080.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6999861
 7039801
  39941
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14104.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 4821385
 4882883
  61499
 GRCh38
 Deletion
 Yes
  larson_17_ASD_discovery_cases-case84
  NA NA
 N/A
 N/A
 ASD and psychosis
 No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
 
 8145330
 8205661
  60332
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU1309301
 N/A
 M
 ASD
 
 
 6808769
 7733453
  924685
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU1309302
 N/A
 M
 ASD
 
 
 6808769
 7733453
  924685
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11180.p1
 NA
 F
 ASD
 NA
 NA
 4780664
 4888919
  108256
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11245.p1
 NA
 M
 ASD
 NA
 NA
 5863462
 5913021
  49560
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11542.p1
 NA
 F
 ASD
 NA
 NA
 4931169
 4982913
  51745
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11590.p1
 NA
 M
 ASD
 NA
 NA
 6150250
 6184496
  34247
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-12494.p1
 NA
 M
 ASD
 NA
 NA
 7664235
 7807505
  143271
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-12715.p1
 NA
 M
 ASD
 NA
 NA
 3604261
 3730250
  125990
 GRCh38
 Duplication
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 24 yrs.
 M
 Schizophrenia
 Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
 Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
 5766850
 5787909
  21060
 GRCh38
 Deletion
 No
  marshall_08_ASD_discovery_cases-NA0113-000
 NA
 M
 ASD
 NA
 NA
 10005996
 10689677
  683682
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-SK0300-003
 NA
 M
 ASD
 NA
 NA
 6867633
 6922023
  54391
 GRCh38
 Deletion
 Yes
  nava_13_ASD_discovery_cases-Fam111Proband10152
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 2884244
 2889391
  5148
 GRCh38
 Deletion
 No
  nord_11_ASD_discovery_cases-203-1
 
 
 ASD
 
 
 6926055
 9211822
  2285768
 Unknown
 Duplication
 No
  pinto_10_ASD_discovery_cases-case5263_3
 NA
 M
 Autism
 Below average language (1%ile), no epilepsy, no dysmorphic features
 Below average IQ (<1%ile)
 5419390
 5476569
  57180
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5324_3
 NA
 M
 ASD
 NA
 NA
 10000244
 10691885
  691642
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case21012_1
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 6830070
 6889896
  59827
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case00HI1663A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU056708; NDAR ID NDAR_INVAC801FDF)
 
 5709051
 5948296
  239246
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case00HI1663A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU056708; NDAR ID NDAR_INVAC801FDF)
 
 5301012
 5581886
  280875
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case00HI1663A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU056708; NDAR ID NDAR_INVAC801FDF)
 
 6845681
 6892502
  46822
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI3629A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU1368302; NDAR ID NDAR_INVFL897HKN)
 
 5233989
 5248489
  14501
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case100558L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 7654476
 7694495
  40020
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case114961L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 5441819
 5461678
  19860
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case146446L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 7498186
 7515428
  17243
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case146452L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 7730396
 7762477
  32082
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case167532
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 7734716
 7833075
  98360
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case49385L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 4926383
 4952162
  25780
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case55449
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 10116873
 10123876
  7004
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case72296
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 10067279
 10107273
  39995
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case82366
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 9971400
 10668899
  697500
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case85276L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 10116873
 10123876
  7004
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case93226
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 4763119
 4867029
  103911
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case95011
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 10116873
 10123876
  7004
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case95578
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 8099692
 8131290
  31599
 Unknown
 Deletion
 No
  rosenfeld_10_ASD_discovery_cases-case24789
 NA
 NA
 ASD
 NA
 NA
 4341302
 4565755
  224453
 Unknown
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1318-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 4785642
 4888994
  103353
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1351-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 4566023
 4668512
  102490
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11009.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 93; verbal IQ, 96
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11049.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
 3262852
 3339857
  77006
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11052.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 97; verbal IQ, 90
 3262852
 3309838
  46987
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11060.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
 4314318
 4355975
  41658
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11080.p1
 5.1
 F
 ASD
 NA
 Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
 5402701
 5405888
  3188
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11088.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11099.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11113.p1
 15
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 100; verbal IQ 84
 8937473
 8943391
  5919
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11114.p1
 8.8
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 3262852
 3299383
  36532
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11114.p1
 8.8
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 8937473
 8943391
  5919
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11131.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
 8937473
 8943391
  5919
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11173.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 71; verbal IQ 49
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11203.p1
 7.1
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 95
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11208.p1
 14.4
 F
 Autism
 NA
 Full-scale IQ, 141; non-verbal IQ, 128; verbal IQ, 149
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11224.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 112; verbal IQ, 136
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11227.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11227.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
 8937473
 8943391
  5919
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11245.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
 5865016
 5913873
  48858
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11270.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 49; verbal IQ, 47
 5402701
 5405888
  3188
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11277.p1
 10.2
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
 10162702
 10211609
  48908
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11285.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 13; non-verbal IQ, 20; verbal IQ, 5
 3262852
 3299383
  36532
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11289.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
 5865016
 5913873
  48858
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11300.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11309.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 34; verbal IQ, 26
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11343.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
 3255442
 3337129
  81688
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11364.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 106; verbal IQ, 104
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11368.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11432.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11445.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 67
 4339914
 4355975
  16062
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11450.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
 10137690
 10142909
  5220
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11455.p1
 7.6
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11459.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 88; verbal IQ, 71
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11474.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
 3262852
 3299383
  36532
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11542.p1
 12.5
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 102; verbal IQ, 121
 4930369
 4984988
  54620
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11546.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 123; verbal IQ, 100
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11564.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 89; verbal IQ, 106
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11568.p1
 13.5
 F
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 28
 10162428
 10204721
  42294
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11583.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 53; verbal IQ, 50
 3262852
 3319206
  56355
 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
 6151770
 6183086
  31317
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11612.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 90; verbal IQ, 79
 4314318
 4355975
  41658
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11666.p1
 7.7
 M
 Autism
 NA
 Full-scale IQ, 49; non-verbal IQ, 51; verbal IQ, 51
 10137690
 10142909
  5220
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11676.p1
 7.1
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 10162428
 10211609
  49182
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11710.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
 5248410
 5254407
  5998
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11798.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 113
 3255442
 3337129
  81688
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11808.p1
 8.8
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
 3262852
 3337129
  74278
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11810.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 104
 5248576
 5254113
  5538
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11818.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
 3255442
 3337129
  81688
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12036.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 54; verbal IQ, 48
 10137690
 10142909
  5220
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12068.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 26
 3262852
 3319206
  56355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12076.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 98
 7889669
 7893385
  3717
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12078.p1
 9.2
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
 10162428
 10211609
  49182
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12083.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
 5487808
 5489969
  2162
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12102.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
 3262852
 3337129
  74278
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12118.p1
 12.6
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
 4385253
 4435332
  50080
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12121.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110
 4961686
 5011356
  49671
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12137.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
 3262852
 3337129
  74278
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12150.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
 3255442
 3300928
  45487
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12201.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
 3255442
 3295776
  40335
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12271.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 41; verbal IQ, 40
 3262852
 3337129
  74278
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12321.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 76
 3255442
 3337129
  81688
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12325.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 81
 3255442
 3339226
  83785
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12331.p1
 12.3
 M
 Aspergers
 NA
 Full-scale IQ, 115; non-verbal IQ, 114; verbal IQ, 111
 3255442
 3337129
  81688
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12339.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 63; verbal IQ, 33
 3255442
 3337129
  81688
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12390.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 97; verbal IQ, 75
 4339914
 4356751
  16838
 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
 5402701
 5405888
  3188
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12444.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
 3603007
 3729398
  126392
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12457.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 103
 7889669
 7893385
  3717
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12465.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 105
 5233810
 5247064
  13255
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12494.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
 7664234
 7806948
  142715
 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
 4452404
 4483801
  31398
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12510.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 47
 8937473
 8943391
  5919
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12572.p1
 14.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
 5880722
 5913873
  33152
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12596.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 89; verbal IQ, 32
 4314318
 4356751
  42434
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12638.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
 6168573
 6171232
  2660
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12698.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 94; verbal IQ, 72
 7192272
 7445125
  252854
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12708.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 63
 10162428
 10211609
  49182
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12715.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 109
 3603007
 3727601
  124595
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12749.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59
 4565643
 4571822
  6180
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12827.p1
 5.5
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
 5185064
 5222914
  37851
 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
 10162428
 10211609
  49182
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12998.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
 5872146
 5913873
  41728
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13036.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
 3283033
 3337129
  54097
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13042.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 79; verbal IQ, 85
 5487808
 5489969
  2162
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13168.p1
 7.9
 F
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 5402701
 5405888
  3188
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13169.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 45; non-verbal IQ, 62; verbal IQ, 37
 5248576
 5254407
  5832
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13322.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
 4565643
 4571488
  5846
 GRCh38
 Deletion
 No
  sato_12_ASD_discovery_cases_1-family1caseIII-5
 32 yrs.
 M
 Asperger
 Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
 Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
 5764470
 5787832
  23363
 GRCh38
 Duplication
 No
  sato_12_ASD_discovery_cases_1-family1caseIII-5
 32 yrs.
 M
 Asperger
 Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
 Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
 4948577
 4954608
  6032
 GRCh38
 Duplication
 No
  sato_12_ASD_discovery_cases_2-family1caseIV-3
 5 yrs. 8 mos.
 M
 Asperger
 Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
 Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
 5760717
 5788838
  28122
 GRCh38
 Duplication
 No
  tropeano_16_ASD_discovery_cases-MAAS18
 30-39 yrs.
 M
 ASD
 Case diagnosed with atypical autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R.
 
 7426025
 7638837
  212813
 GRCh38
 Duplication
 Yes
  vaags_11_ASD_discovery_cases-probandF2-003
 3 yrs. 5 mos.
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 7795887
 7806948
  11062
 GRCh38
 Deletion
 No
  wang_18_TS_discovery_cases-caseM_Gre_89.p1
 N/A
 N/A
 Tourette syndrome
 Tourette syndrome proband from phase 2 cohort; no additional clinical information available
 
 3371576
 4055637
  684062
 GRCh38
 Duplication
 Yes
  wintle_10_ASD_discovery_cases-AN13872
 5
 F
 Autism
 Autism
 
 5864479
 5914280
  49802
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case398
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 2915616
 2965546
  49931
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case399
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 3400501
 3603007
  202507
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case400
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 3400501
 3603007
  202507
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case401
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 4337814
 4370299
  32486
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case402
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 4337814
 4370299
  32486
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case403
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 5466366
 5476387
  10022
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case404
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 5470803
 5472154
  1352
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case405
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 5914268
 5922991
  8724
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036017911_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5981590
  6086625
  105036
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036025005_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8117553
  8159347
  41795
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB282636_1007852934
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5410756
  5549541
  138786
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB319777_1007842101
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7759220
  7854534
  95315
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB338919_1007853845
  N/A
  N/A
  Control
  No previous psychiatric history
 
  9614829
  9682330
  67502
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB524961_1007872292
  N/A
  N/A
  Control
  No previous psychiatric history
 
  4777979
  4891827
  113849
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB674484_1007854078
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7539967
  7636028
  96062
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB812969_1007874819
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5419390
  5476569
  57180
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB913963_1007845346
  N/A
  N/A
  Control
  No previous psychiatric history
 
  4574356
  4734275
  159920
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB913963_1007845346
  N/A
  N/A
  Control
  No previous psychiatric history
 
  4314318
  4530872
  216555
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB913963_1007845346
  N/A
  N/A
  Control
  No previous psychiatric history
 
  4802204
  4865063
  62860
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB969719_1007842424
  N/A
  N/A
  Control
  No previous psychiatric history
 
  3231090
  3350633
  119544
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900972_900972
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5076572
  5193189
  116618
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901201_901201
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5618643
  5981590
  362948
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901203_901203
  N/A
  N/A
  Control
  No previous psychiatric history
 
  4515000
  4556692
  41693
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902822_902822
  N/A
  N/A
  Control
  No previous psychiatric history
 
  4777979
  4890962
  112984
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902856_902856
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5046128
  5193189
  147062
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1268
  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
 
  2936434
  2939050
  2617
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1540
  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
 
  5410934
  5431986
  21053
  Unknown
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11180.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11180. SRS score of 43.
 
  4848236
  4882883
  34648
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control11569.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11569. SRS score of 45.
 
  5840955
  5857702
  16748
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control12581.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12581. SRS score of 37.
 
  7927717
  7939520
  11804
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control12683.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12683. SRS score of 36.
 
  4988211
  4999930
  11720
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control12415.s2
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  4988211
  4999930
  11720
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12494.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  7665373
  7796942
  131570
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12581.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  7927717
  7939520
  11804
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12851.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  5884292
  5885233
  942
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13128.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  8925462
  8927174
  1713
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13764.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6768006
  6785990
  17985
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14042.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6431210
  6458296
  27087
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14309.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  5422200
  5454427
  32228
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11180.s1
  NA
  M
  Control
  NA
  NA
  4780664
  4888919
  108256
  GRCh38
  Deletion
  No
  levy_11_ASD_discovery_controls-11245.s1
  NA
  M
  Control
  NA
  NA
  5863462
  5913021
  49560
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11416.s1
  NA
  M
  Control
  NA
  NA
  9430599
  9514220
  83622
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11542.s1
  NA
  F
  Control
  NA
  NA
  4931169
  4982913
  51745
  GRCh38
  Deletion
  No
  levy_11_ASD_discovery_controls-11590.s1
  NA
  F
  Control
  NA
  NA
  6150250
  6184496
  34247
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-12494.s1
  NA
  F
  Control
  NA
  NA
  7664235
  7807505
  143271
  GRCh38
  Deletion
  No
  nord_11_ASD_discovery_controls-04C28427
 
 
  Control
 
 
  5279392
  5378647
  99256
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11033.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  3262852
  3319206
  56355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11057.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  3262852
  3319206
  56355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11094.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  3295234
  3299383
  4150
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11208.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  3262852
  3319206
  56355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11227.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  3262852
  3319206
  56355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11227.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  8937473
  8943391
  5919
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11245.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  5865016
  5913873
  48858
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11265.s1
  0
  F
  Control (matched sibling)
  NA
  NA
  3262852
  3319206
  56355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11289.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  5865016
  5913873
  48858
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11309.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  3262852
  3319206
  56355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11348.s1
  9.2
  F
  Control (matched sibling)
  NA
  NA
  10162428
  10211609
  49182
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11374.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  8933949
  8943391
  9443
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11375.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  3604490
  3624115
  19626
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11399.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  3262852
  3319206
  56355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11422.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  3262852
  3319206
  56355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11473.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  3262852
  3299383
  36532
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11474.s1
  19
  M
  Control (matched sibling)
  NA
  NA
  3262852
  3319206
  56355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11504.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  3262852
  3319206
  56355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11521.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  3262852
  3319206
  56355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11542.s1
  14.6
  F
  Control (matched sibling)
  NA
  NA
  4930369
  4982726
  52358
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11584.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  3262852
  3319206
  56355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11590.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  6151770
  6183086
  31317
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11654.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  3212114
  3222443
  10330
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11666.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  3262852
  3337129
  74278
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11714.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  4328926
  4356751
  27826
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11797.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  5402701
  5405888
  3188
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11808.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  3262852
  3309838
  46987
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11835.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  5402701
  5405888
  3188
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11964.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  3262852
  3335056
  72205
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12083.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  5487808
  5489969
  2162
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12086.s1
  25.2
  M
  Control (matched sibling)
  NA
  NA
  3255442
  3337129
  81688
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12121.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  4961686
  5015835
  54150
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12152.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  3255442
  3337129
  81688
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12211.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  5402701
  5405888
  3188
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12233.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  5401443
  5405888
  4446
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12238.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  9703657
  9717074
  13418
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12252.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  5402409
  5405888
  3480
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12339.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  3255442
  3319427
  63986
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12444.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  3603007
  3729398
  126392
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12457.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  3262852
  3337129
  74278
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12460.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  10137690
  10142909
  5220
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12494.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  7664234
  7806948
  142715
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12510.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  8937473
  8943391
  5919
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12581.s1
  15.7
  M
  Control (matched sibling)
  NA
  NA
  7926661
  7929122
  2462
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12638.s1
  17.8
  F
  Control (matched sibling)
  NA
  NA
  5044857
  5051871
  7015
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12691.s1
  23.8
  M
  Control (matched sibling)
  NA
  NA
  10162428
  10199175
  36748
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12851.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  5872146
  5913873
  41728
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12879.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  8937473
  8943391
  5919
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12907.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  7025707
  7038729
  13023
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12957.s1
  13.3
  F
  Control (matched sibling)
  NA
  NA
  10137690
  10142909
  5220
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13080.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  8937473
  8943144
  5672
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 celestino-soper_11_ASD_discovery_cases-11399
 
 
 Unknown
 Simplex
 NA
 SCUBE2
 
 chilian_13_DD/ID_discovery_cases-case1
 
 
 Unknown
 Possibly simplex (no info on 1st child)
 Unknown
 OR52N5,TRIM5,OR56B2P
 
 engchuan_15_ASD_discovery_cases-case1240_3
 
 
 Unknown
 
 
 PHLDA2,SLC22A18AS,SLC22A18,NAP1L4,CDKN1C
 
 engchuan_15_ASD_discovery_cases-case14164_2680
 
 
 Unknown
 
 
 SSU72P5,SSU72P2,SSU72P6,SSU72P4,SSU72P3,SSU72P7
 
 engchuan_15_ASD_discovery_cases-case21012_1
 
 
 Unknown
 
 
 OR10A5,OR10A4,OR10A2
 
 engchuan_15_ASD_discovery_cases-case3068_4
 
 
 Unknown
 
 
 OR51F5P,OR51C4P,KRT8P49,OR51F3P,MMP26
 
 engchuan_15_ASD_discovery_cases-case3580_2
 
 
 Unknown
 
 
 OR51N1P,OR52Y1P,OR52R1,OR51F2,OR51A8P,OR51S1,OR51H1,OR51H2P,OR51T1,MMP26
 
 engchuan_15_ASD_discovery_cases-case4162_1
 
 
 Unknown
 
 
 SSU72P6,SSU72P4,SSU72P3,SSU72P7,OR52B4,OR52B3P,OR51R1P,OR52P2P,OR52K2,OR52M2P,OR52M1,C11orf40,TRIM21,OR52K1,OR52K3P
 
 engchuan_15_ASD_discovery_cases-case4461_1
 
 
 Unknown
 
 
 OR51J1,OR51K1P,OR51I1,OR51A10P,OR51Q1,OR51I2,HBG2,HBE1,OR51B5
 
 engchuan_15_ASD_discovery_cases-case4523_1
 
 
 Unknown
 
 
 OR52S1P,OR52E3P,OR52J1P,OR52A4P,OR52A5,OR51A1P,OR52Z1,OR52A1
 
 engchuan_15_ASD_discovery_cases-case5324_3
 
 
 Unknown
 
 
 RNU6ATAC33P,MTRNR2L8,MIR4485,ADM,RNF141,MRVI1-AS1,LYVE1,SBF2,MRVI1,AMPD3
 
 engchuan_15_ASD_discovery_cases-case6180_4
 
 
 Unknown
 
 
 OR51A1P,OR52Z1,OR51V1,OR52A1,HBB,HBD
 
 engchuan_15_ASD_discovery_cases-case6225_4
 
 
 Unknown
 
 
 OR51J1,OR51K1P,OR51I1,OR51Q1,HBG2,HBE1,OR51B5
 
 engchuan_15_ASD_discovery_cases-case6332_3
 
 
 Unknown
 
 
 OR52L1,KRT18P58,OR56A4,RNA5SP329,OR56A1
 
 engchuan_15_ASD_discovery_cases-case6400_5
 
 
 Unknown
 
 
 C11orf40,OR52I1,OR51D1,OR51A9P,TRIM68,OR51E1,OR52I2
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000004
 
 
 De novo
 Unknown
 Unknown
 ZNF143
 
 gai_11_ASD_discovery_cases-AU1502301
 
 
 Inherited
 
 
 OR5P2, OR5P3, OR5E1P
 
 gai_11_ASD_discovery_cases-AU1502302
 
 
 Inherited
 
 
 OR5P2, OR5P3, OR5E1P
 
 gai_11_ASD_replication_cases-AU065404
 
 
 Inherited
 
 
 OR2AG2, OR2AG1
 
 gai_11_ASD_replication_cases-AU0965301
 
 
 Inherited
 
 
 OR2AG2, OR2AG1
 
 gai_11_ASD_replication_cases-AU0965302
 
 
 Inherited
 
 
 OR2AG2, OR2AG1
 
 gazzellone_14_ASD_discovery_cases-case609-3
 
 
 Unknown
 Unknown
 Unknown
 MTRNR2L8,MIR4485,RNF141,AMPD3
 
 girirajan_11_ASD_discovery_cases-Si185
 
 
 Unknown
 Simplex
 
 OR51B2,OR51B8P,OR51B6,OR51J1,OR51K1P,OR51I1,OR51A10P,OR52D1,UBQLN3,UBQLNL,OR52V1P,OR52H1,OR52H2P,OR52B5P,OR52T1P,HNRNPA1P53,OR52B6,OR52U1P,OR52P1P,OR56B1,OR52N4,OR51M1,OR51Q1,OR51I2,OLFM5P,TRIM6,TRIM22,HBG2,HBE1,OR51B5,TRIM6-TRIM34,TRIM34,TRIM5,OR56B2P
 
 girirajan_13a_ASD_discovery_cases-13951.p1
 
 
 Unknown
 Simplex
 Unknown
 SSU72P2,SSU72P6,SSU72P4,SSU72P3,SSU72P7,OR52B4,OR52B3P,OR51R1P,OR52P2P,OR52K2,TRIM21,OR52K1,OR52K3P
 
 girirajan_13b_ASD_discovery_cases-46805104136
 
 
 Unknown
 Unknown
 Unknown
 PRR13P2,SNORA23,ZNF143,SCUBE2,DENND5A,TMEM41B,IPO7
 
 gregory_09_ASD_discovery_cases-19991875
 aCGH dye swap
 
 Unknown
 NA
 NA
 SSU72P3,SSU72P7,OR52B4,OR52B3P,OR51R1P,OR52P2P,OR52K2,OR52M2P,OR52M1,C11orf40,OR52I1,TRIM21,OR52K1,TRIM68,OR52K3P,OR52I2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002338
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 OR52U1P,OR52P1P,OR56B1,OR52N4,OR52N5,OR52N1,OR52N3P,OR52N2,OR52E6,OR52E8,OR52E7P,OR52Q1P,OR56A5,OR52L1,KRT18P58,OR56A4,RNA5SP329,OR56A7P,OR52L2P,OR52X1P,OR56B4,OR56B3P,OR52B1P,OR52B2,OR52W1,CCKBR,CAVIN3,SMPD1,TRIM6,TRIM22,OR52E4,OR56A3,C11orf42,FAM160A2,CNGA4,APBB1,HPX,TRIM6-TRIM34,TRIM34,TRIM5,OR56B2P,OR52E5,OR56A1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004230
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-50P,MIR4687,PPIAP40,HNRNPA1P76,RPS29P20,RRM1-AS1,OR55B1P,SSU72P5,SSU72P2,SSU72P6,SSU72P4,SSU72P3,SSU72P7,OR52B4,OR52B3P,OR51R1P,OR52P2P,OR52K2,OR52M2P,OR52M1,C11orf40,OR52I1,OR51D1,OR51A9P,OR51C1P,OR51F5P,OR51C4P,KRT8P49,OR51F3P,OR51F4P,OR51F1,OR51N1P,OR52Y1P,OR52R1,OR51F2,OR51A8P,OR51S1,OR51H1,OR51H2P,OR51A6P,OR51A7,OR51G1,OR51A3P,OR51A4,OR51A2,OR51A5P,OR51P1P,OR52J2P,OR52J3,OR52E2,OR52E1,OR52S1P,OR52E3P,OR52J1P,OR52A4P,OR52A5,OR51A1P,OR52Z1,OR51V1,BGLT3,HBG1,OR51B4,OR51B3P,OR51B2,OR51B8P,OR51B6,OR51J1,OR51K1P,OR51I1,OR51A10P,OR52D1,UBQLN3,UBQLNL,OR52V1P,OR52H1,OR52H2P,OR52B5P,OR52T1P,HNRNPA1P53,OR52B6,OR52U1P,OR52P1P,OR56B1,OR52N4,OR52N5,OR52N1,OR52N3P,OR52N2,OR52E6,OR52E8,OR52E7P,OR52Q1P,OR56A5,OR52L1,KRT18P58,OR56A4,RNA5SP329,OR56A7P,OR52L2P,OR52X1P,OR56B4,OR56B3P,OR52B1P,OR52B2,OR52W1,CCKBR,CAVIN3,SMPD1,ARFIP2,TIMM10B,ILK,TAF10,MRPL17,OR2AG1,OR10A5,OR10A4,OR2D2,OR2D3,RBMXL2,MIR302E,OR10AB1P,OR5P4P,OR5P1P,OR5P2,OR5P3,NUP98,RHOG,RRM1,TRIM21,OR52K1,TRIM68,OR51E1,OR51E2,OR51T1,OR51G2,OR51L1,OR52A1,HBB,OR51AB1P,OR51M1,OR51Q1,OR51I2,OLFM5P,TRIM6,TRIM22,OR52E4,OR56A3,C11orf42,FAM160A2,CNGA4,APBB1,HPX,TRIM3,RRP8,TPP1,DCHS1,GVINP1,GVINP2,OR2AG2,OR6A2,OR10A2,ZNF214,NLRP14,OLFML1,CYB5R2,OVCH2,PGAP2,STIM1,OR52K3P,OR52I2,MMP26,HBG2,HBE1,OR51B5,TRIM6-TRIM34,TRIM34,TRIM5,OR56B2P,OR52E5,OR56A1,DNHD1,ZNF215,PPFIBP2,HBD,HBBP1,SYT9
 
 krumm_13_ASD_discovery_cases-case11180.p1
 
 
 Paternal
 Simplex
 Not segregated
 OR51S1,OR51H1,OR51H2P,OR51T1,MMP26
 
 krumm_13_ASD_discovery_cases-case11569.p1
 aCGH (Agilent SurePrint G3 4x180K)
 
 Paternal
 Simplex
 Not segregated
 OR52E6,OR52E8,TRIM5
 
 krumm_15_ASD_discovery_cases-case11571.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 OR52N5,OR52N1,TRIM5
 
 krumm_15_ASD_discovery_cases-case11773.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 OR52N5,OR52N1,TRIM5
 
 krumm_15_ASD_discovery_cases-case12118.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 TRIM21
 
 krumm_15_ASD_discovery_cases-case12121.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MMP26
 
 krumm_15_ASD_discovery_cases-case12494.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 OR10AB1P,OR5P4P,OR5P1P,OR5P2,CYB5R2,OVCH2
 
 krumm_15_ASD_discovery_cases-case12698.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 MIR302E,SYT9
 
 krumm_15_ASD_discovery_cases-case12715.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ART5,RNU6-1143P,ART1,NUP98,CHRNA10
 
 krumm_15_ASD_discovery_cases-case13150.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 OR52N5,OR52N1,TRIM5
 
 krumm_15_ASD_discovery_cases-case13764.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 OR2AG1,OR2AG2
 
 krumm_15_ASD_discovery_cases-case14042.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 HPX,TRIM3
 
 krumm_15_ASD_discovery_cases-case14080.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 ZNF214,NLRP14,ZNF215
 
 krumm_15_ASD_discovery_cases-case14104.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 OR51F2,OR51A8P,OR51S1,OR51H1,OR51H2P,OR51T1,MMP26
 
 larson_17_ASD_discovery_cases-case84
 
 
 Unknown
 
 Unknown
 RIC3
 
 leppa_16_ASD_discovery_cases-AU1309301
 
 
 Maternal
 Multiplex
 Segregated (CNV present in both affected siblings)
 OR10A5,OR10A4,OR2D2,OR2D3,RBMXL2,MIR302E,OR10AB1P,OR10A2,ZNF214,NLRP14,OLFML1,CYB5R2,OVCH2,ZNF215,PPFIBP2,SYT9
 
 leppa_16_ASD_discovery_cases-AU1309302
 
 
 Maternal
 Multiplex
 Segregated (CNV present in both affected siblings)
 OR10A5,OR10A4,OR2D2,OR2D3,RBMXL2,MIR302E,OR10AB1P,OR10A2,ZNF214,NLRP14,OLFML1,CYB5R2,OVCH2,ZNF215,PPFIBP2,SYT9
 
 levy_11_ASD_discovery_cases-11180.p1
 
 
 Paternal
 Simplex
 Not segregated
 OR51N1P,OR52Y1P,OR52R1,OR51F2,OR51A8P,OR51S1,OR51H1,OR51H2P,OR51T1,MMP26
 
 levy_11_ASD_discovery_cases-11245.p1
 
 
 Paternal
 Simplex
 Not segregated
 OR52E7P,OR52Q1P,OR52E4,TRIM5,OR52E5
 
 levy_11_ASD_discovery_cases-11542.p1
 
 
 Maternal
 Simplex
 Not segregated
 OR51A3P,OR51A4,OR51A2,OR51A5P,MMP26
 
 levy_11_ASD_discovery_cases-11590.p1
 
 
 Maternal
 Simplex
 Not segregated
 OR52B1P,OR52B2
 
 levy_11_ASD_discovery_cases-12494.p1
 
 
 Paternal
 Simplex
 Not segregated
 OR10AB1P,OR5P4P,OR5P1P,OR5P2,CYB5R2,OVCH2
 
 levy_11_ASD_discovery_cases-12715.p1
 
 
 Maternal
 Simplex
 Segregated
 ART5,RNU6-1143P,TRPC2,ART1,NUP98,CHRNA10
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 
 
 Unknown
 Simplex
 Unknown
 OR52N5,OR52N1,TRIM5,OR56B2P
 
 marshall_08_ASD_discovery_cases-NA0113-000
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 RNU6ATAC33P,MTRNR2L8,MIR4485,ADM,RNF141,MRVI1-AS1,LYVE1,SBF2,MRVI1,AMPD3
 
 marshall_08_ASD_discovery_cases-SK0300-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 OR10A4,OR2D2,OR2D3,OR10A2
 
 nava_13_ASD_discovery_cases-Fam111Proband10152
 
 
 Maternal
 Simplex
 Unknown
 SLC22A18AS,CDKN1C
 
 nord_11_ASD_discovery_cases-203-1
 
 
 Maternal
 
 
 ASCL3,C11orf16,C11orf17,CYB5R2,EIF3F,FLJ46111,LMO1,NLRP10,NLRP14,NRIP3,OLFML1,OR10A3,OR10A6,OR5E1P,OR5P2,OR5P3,OVCH2,PPFIBP2,RBMXL2,RIC3,RPL27A,SCUBE2,ST5,STK33,SYT9,TMEM9B,TRIM66,TUB,ZNF214,DENND5A,ZNF215
 Decreased ZNF214 expression
 pinto_10_ASD_discovery_cases-case5263_3
 qPCR
 
 maternal
 Simplex (sib with ADHD)
 Unknown
 OR51K1P,OR51I1,OR51A10P,OR51Q1,OR51I2,HBG2,HBE1,OR51B5
 
 pinto_10_ASD_discovery_cases-case5324_3
 Agilent1M
 
 maternal
 NA
 NA
 RNU6ATAC33P,MTRNR2L8,MIR4485,ADM,RNF141,MRVI1-AS1,LYVE1,SBF2,MRVI1,AMPD3
 
 pinto_14_ASD_discovery_cases2-case21012_1
 qPCR
 
 Paternal
 Simplex
 (not tested)
 OR10A5,OR10A4,OR10A2
 
 poultney_13_ASD_discovery_cases-case00HI1663A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 OR52U1P,OR52P1P,OR56B1,OR52N4,OR52N5,OR52N1,OR52N3P,OR52N2,OR52E6,OR52E8,OR52E7P,OR52Q1P,TRIM22,OR52E4,OR56A3,TRIM5,OR56B2P,OR52E5
 
 poultney_13_ASD_discovery_cases-case00HI1663A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 OR51B4,OR51B3P,OR51B2,OR51B8P,OR51B6,OR51J1,OR51K1P,OR51I1,OR51A10P,OR52D1,UBQLN3,UBQLNL,OR52V1P,OR52H1,OR52H2P,OR52B5P,OR52T1P,HNRNPA1P53,OR52B6,OR51M1,OR51Q1,OR51I2,OLFM5P,HBG2,HBE1,OR51B5
 
 poultney_13_ASD_discovery_cases-case00HI1663A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 OR10A5,OR10A4,OR2D2,OR10A2
 
 poultney_13_ASD_discovery_cases-case05HI3629A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 BGLT3,HBG1,HBD,HBBP1
 
 prasad_12_ASD_discovery_cases-case100558L
 
 
 Unknown
 Unknown
 Unknown
 OVCH2
 
 prasad_12_ASD_discovery_cases-case114961L
 
 
 Unknown
 Unknown
 Unknown
 OR51B5
 
 prasad_12_ASD_discovery_cases-case146446L
 
 
 Unknown
 Unknown
 Unknown
 PPFIBP2
 
 prasad_12_ASD_discovery_cases-case146452L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case167532
 
 
 Unknown
 Unknown
 Unknown
 LOC283299,OR5E1P,OR5P3,OR5P2
 
 prasad_12_ASD_discovery_cases-case49385L
 
 
 Unknown
 Unknown
 Unknown
 OR51A2
 
 prasad_12_ASD_discovery_cases-case55449
 
 
 Unknown
 Unknown
 Unknown
 SBF2
 
 prasad_12_ASD_discovery_cases-case72296
 
 
 Unknown
 Unknown
 Unknown
 SBF2
 
 prasad_12_ASD_discovery_cases-case82366
 
 
 Unknown
 Unknown
 Unknown
 SBF2,MRVI1,LYVE1,AMPD3,LOC100129827,MTRNR2L8,RNF141,ADM
 
 prasad_12_ASD_discovery_cases-case85276L
 
 
 Unknown
 Unknown
 Unknown
 SBF2
 
 prasad_12_ASD_discovery_cases-case93226
 
 
 Unknown
 Unknown
 Unknown
 OR51F2,OR51T1,OR52R1,OR51S1
 
 prasad_12_ASD_discovery_cases-case95011
 
 
 Unknown
 Unknown
 Unknown
 SBF2
 
 prasad_12_ASD_discovery_cases-case95578
 
 
 Unknown
 Unknown
 Unknown
 RIC3
 
 rosenfeld_10_ASD_discovery_cases-case24789
 FISH
 
 Unknown
 Unknown
 Unknown
 OR52B4,TRIM21,OR52K2,OR52K1,OR52M1,C11orf40,OR52I2
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1318-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 OR51N1P,OR52Y1P,OR52R1,OR51F2,OR51A8P,OR51S1,OR51H1,OR51H2P,OR51T1,MMP26
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1351-0
 qPCR
 
 Paternal
 Unknown
 Unknown
 C11orf40,OR52I1,OR51D1,OR51A9P,TRIM68,OR51E1,OR52I2
 
 sanders_11_ASD_discovery_cases-11009.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11049.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 NDUFA5P8,NDUFA5P1,ZNF195
 
 sanders_11_ASD_discovery_cases-11052.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11060.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 SSU72P3,SSU72P7
 
 sanders_11_ASD_discovery_cases-11080.p1
 
 
 Unknown
 Simplex (trio)
 NA
 OR51J1,HBG2,HBE1,OR51B5
 
 sanders_11_ASD_discovery_cases-11088.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11099.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11113.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ASCL3
 
 sanders_11_ASD_discovery_cases-11114.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11114.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ASCL3
 
 sanders_11_ASD_discovery_cases-11131.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ASCL3
 
 sanders_11_ASD_discovery_cases-11173.p1
 
 
 Unknown
 Simplex (trio)
 NA
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11203.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11208.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11224.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11227.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11227.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ASCL3
 
 sanders_11_ASD_discovery_cases-11245.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 OR52E7P,OR52Q1P,OR52E4,TRIM5,OR52E5
 
 sanders_11_ASD_discovery_cases-11270.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 OR51J1,HBG2,HBE1,OR51B5
 
 sanders_11_ASD_discovery_cases-11277.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SBF2
 
 sanders_11_ASD_discovery_cases-11285.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11289.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 OR52E7P,OR52Q1P,OR52E4,TRIM5,OR52E5
 
 sanders_11_ASD_discovery_cases-11300.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11309.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11343.p1
 
 
 Maternal
 Simplex (trio)
 NA
 NDUFA5P8,NDUFA5P1
 
 sanders_11_ASD_discovery_cases-11364.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11368.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11432.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11445.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11450.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 SBF2
 
 sanders_11_ASD_discovery_cases-11455.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11459.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11474.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11542.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR51A3P,OR51A4,OR51A2,OR51A5P,MMP26
 
 sanders_11_ASD_discovery_cases-11546.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11564.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11568.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SBF2
 
 sanders_11_ASD_discovery_cases-11583.p1
 
 
 Paternal
 Simplex (trio)
 NA
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-11590.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR52B1P,OR52B2
 
 sanders_11_ASD_discovery_cases-11612.p1
 
 
 Maternal
 Simplex (trio)
 NA
 SSU72P3,SSU72P7
 
 sanders_11_ASD_discovery_cases-11666.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SBF2
 
 sanders_11_ASD_discovery_cases-11676.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SBF2
 
 sanders_11_ASD_discovery_cases-11710.p1
 
 
 Paternal
 Simplex (trio)
 NA
 HBG1,HBG2
 
 sanders_11_ASD_discovery_cases-11798.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8,NDUFA5P1
 
 sanders_11_ASD_discovery_cases-11808.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8,NDUFA5P1
 
 sanders_11_ASD_discovery_cases-11810.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 HBG1,HBG2
 
 sanders_11_ASD_discovery_cases-11818.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8,NDUFA5P1
 
 sanders_11_ASD_discovery_cases-12036.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SBF2
 
 sanders_11_ASD_discovery_cases-12068.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-12076.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12078.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SBF2
 
 sanders_11_ASD_discovery_cases-12083.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OR52D1,HBG2,HBE1,OR51B5
 
 sanders_11_ASD_discovery_cases-12102.p1
 
 
 Paternal
 Simplex (trio)
 NA
 NDUFA5P8,NDUFA5P1
 
 sanders_11_ASD_discovery_cases-12118.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 OR51R1P,OR52P2P,TRIM21,OR52K3P
 
 sanders_11_ASD_discovery_cases-12121.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR51A5P,OR51L1,MMP26
 
 sanders_11_ASD_discovery_cases-12137.p1
 
 
 Maternal
 Simplex (trio)
 NA
 NDUFA5P8,NDUFA5P1
 
 sanders_11_ASD_discovery_cases-12150.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-12201.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8
 
 sanders_11_ASD_discovery_cases-12271.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8,NDUFA5P1
 
 sanders_11_ASD_discovery_cases-12321.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8,NDUFA5P1
 
 sanders_11_ASD_discovery_cases-12325.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8,NDUFA5P1
 
 sanders_11_ASD_discovery_cases-12331.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8,NDUFA5P1
 
 sanders_11_ASD_discovery_cases-12339.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P8,NDUFA5P1
 
 sanders_11_ASD_discovery_cases-12390.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12415.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR51J1,HBG2,HBE1,OR51B5
 
 sanders_11_ASD_discovery_cases-12444.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ART5,RNU6-1143P,TRPC2,ART1,NUP98,CHRNA10
 
 sanders_11_ASD_discovery_cases-12457.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12465.p1
 
 
 Paternal
 Simplex (trio)
 NA
 BGLT3,HBD,HBBP1
 
 sanders_11_ASD_discovery_cases-12494.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 OR10AB1P,OR5P4P,OR5P1P,OR5P2,CYB5R2,OVCH2
 
 sanders_11_ASD_discovery_cases-12497.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR52K1,OR52K3P
 
 sanders_11_ASD_discovery_cases-12510.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ASCL3
 
 sanders_11_ASD_discovery_cases-12572.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 OR52Q1P,OR52E4,TRIM5,OR52E5
 
 sanders_11_ASD_discovery_cases-12596.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SSU72P3,SSU72P7
 
 sanders_11_ASD_discovery_cases-12638.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR52B2
 
 sanders_11_ASD_discovery_cases-12698.p1
 
 
 Paternal
 Simplex (trio)
 NA
 MIR302E,SYT9
 
 sanders_11_ASD_discovery_cases-12708.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SBF2
 
 sanders_11_ASD_discovery_cases-12715.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ART5,RNU6-1143P,TRPC2,ART1,NUP98,CHRNA10
 
 sanders_11_ASD_discovery_cases-12749.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C11orf40
 
 sanders_11_ASD_discovery_cases-12827.p1
 
 
 Maternal
 Simplex (trio)
 NA
 OR51V1
 
 sanders_11_ASD_discovery_cases-12864.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SBF2
 
 sanders_11_ASD_discovery_cases-12998.p1
 
 
 Paternal
 Simplex (trio)
 NA
 OR52E7P,OR52Q1P,OR52E4,TRIM5,OR52E5
 
 sanders_11_ASD_discovery_cases-13036.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P1
 
 sanders_11_ASD_discovery_cases-13042.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OR52D1,HBG2,HBE1,OR51B5
 
 sanders_11_ASD_discovery_cases-13168.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OR51J1,HBG2,HBE1,OR51B5
 
 sanders_11_ASD_discovery_cases-13169.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 HBG1,HBG2
 
 sanders_11_ASD_discovery_cases-13322.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C11orf40
 
 sato_12_ASD_discovery_cases_1-family1caseIII-5
 
 Possibly maternal
 Unknown
 Simplex for ASD; multiplex for anxiety disorder
 Unknown
 OR52N5,OR52N1,TRIM5,OR56B2P
 
 sato_12_ASD_discovery_cases_1-family1caseIII-5
 
 Possibly maternal
 Unknown
 Simplex for ASD; multiplex for anxiety disorder
 Unknown
 MMP26
 
 sato_12_ASD_discovery_cases_2-family1caseIV-3
 
 Possibly maternal
 Unknown
 Multiplex (brother with Asperger)
 Unknown
 OR52N5,OR52N1,TRIM5,OR56B2P
 
 tropeano_16_ASD_discovery_cases-MAAS18
 MLPA or aCGH
 
 Unknown
 Unknown
 Unknown
 OLFML1,PPFIBP2,SYT9
 
 vaags_11_ASD_discovery_cases-probandF2-003
 
 
 Unknown
 Multiplex
 Unknown
 OR5P2
 
 wang_18_TS_discovery_cases-caseM_Gre_89.p1
 qPCR
 
 De novo
 
 
 FAM86GP,SNRPCP5,RPS3AP39,RPS24P14,OR7E117P,ART5,RNU6-1143P,RNU7-50P,MIR4687,PPIAP40,HNRNPA1P76,RPS29P20,ZNF195,OR7E12P,TRPC2,ART1,NUP98,RHOG,TSSC2,CHRNA10,PGAP2,STIM1
 
 wintle_10_ASD_discovery_cases-AN13872
 
 
 Unknown
 Unknown
 Unknown
 OR52E7P,OR52Q1P,OR52E4,TRIM5,OR52E5
 
 yin_16_ASD_discovery_cases-case398
 
 
 Unknown
 Unknown
 Unknown
 PHLDA2,SNORA54,SLC22A18,NAP1L4
 
 yin_16_ASD_discovery_cases-case399
 
 
 Unknown
 Unknown
 Unknown
 FAM86GP,SNRPCP5,RPS3AP39,RPS24P14,OR7E117P,TSSC2
 
 yin_16_ASD_discovery_cases-case400
 
 
 Unknown
 Unknown
 Unknown
 FAM86GP,SNRPCP5,RPS3AP39,RPS24P14,OR7E117P,TSSC2
 
 yin_16_ASD_discovery_cases-case401
 
 
 Unknown
 Unknown
 Unknown
 SSU72P7,OR52B4
 
 yin_16_ASD_discovery_cases-case402
 
 
 Unknown
 Unknown
 Unknown
 SSU72P7,OR52B4
 
 yin_16_ASD_discovery_cases-case403
 
 
 Unknown
 Unknown
 Unknown
 OR51A10P,HBG2,HBE1,OR51B5
 
 yin_16_ASD_discovery_cases-case404
 
 
 Unknown
 Unknown
 Unknown
 HBG2,HBE1,OR51B5
 
 yin_16_ASD_discovery_cases-case405
 
 
 Unknown
 Unknown
 Unknown
 TRIM5
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036017911_
 
 
  Unknown
 
 
  OR52L1,KRT18P58,OR56A4,RNA5SP329,OR56A7P,OR52L2P,OR52X1P,OR56A1
 
engchuan_15_ASD_discovery_controls-control110036025005_
 
 
  Unknown
 
 
  RIC3
 
engchuan_15_ASD_discovery_controls-controlB282636_1007852934
 
 
  Unknown
 
 
  OR51K1P,OR51I1,OR51A10P,OR52D1,UBQLN3,UBQLNL,OR52V1P,OR52H1,OR51Q1,OR51I2,OLFM5P,HBG2,HBE1,OR51B5
 
engchuan_15_ASD_discovery_controls-controlB319777_1007842101
 
 
  Unknown
 
 
  OR5P1P,OR5P2,OR5P3,OR5E1P
 
engchuan_15_ASD_discovery_controls-controlB338919_1007853845
 
 
  Unknown
 
 
  RN7SKP50,SWAP70
 
engchuan_15_ASD_discovery_controls-controlB524961_1007872292
 
 
  Unknown
 
 
  OR51N1P,OR52Y1P,OR52R1,OR51F2,OR51A8P,OR51S1,OR51H1,OR51H2P,OR51A6P,OR51T1,MMP26
 
engchuan_15_ASD_discovery_controls-controlB674484_1007854078
 
 
  Unknown
 
 
  PPFIBP2
 
engchuan_15_ASD_discovery_controls-controlB812969_1007874819
 
 
  Unknown
 
 
  OR51K1P,OR51I1,OR51A10P,OR51Q1,OR51I2,HBG2,HBE1,OR51B5
 
engchuan_15_ASD_discovery_controls-controlB913963_1007845346
 
 
  Unknown
 
 
  C11orf40,OR52I1,OR51D1,OR51A9P,OR51C1P,OR51F5P,OR51C4P,KRT8P49,TRIM68,OR51E1,OR51E2,OR52I2,MMP26
 
engchuan_15_ASD_discovery_controls-controlB913963_1007845346
 
 
  Unknown
 
 
  SSU72P3,SSU72P7,OR52B4,OR52B3P,OR51R1P,OR52P2P,OR52K2,OR52M2P,TRIM21,OR52K1,OR52K3P
 
engchuan_15_ASD_discovery_controls-controlB913963_1007845346
 
 
  Unknown
 
 
  OR52R1,OR51F2,OR51A8P,OR51S1,OR51H1,MMP26
 
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
 
 
  Unknown
 
 
  MRGPRE,NDUFA5P8,NDUFA5P1,ZNF195
 
engchuan_15_ASD_discovery_controls-controlHABC_900972_900972
 
 
  Unknown
 
 
  OR52S1P,OR52E3P,OR52J1P,OR52A4P,OR52A5,OR51A1P,OR52Z1,OR52A1
 
engchuan_15_ASD_discovery_controls-controlHABC_901201_901201
 
 
  Unknown
 
 
  OR52U1P,OR52P1P,OR56B1,OR52N4,OR52N5,OR52N1,OR52N3P,OR52N2,OR52E6,OR52E8,OR52E7P,OR52Q1P,OR56A5,TRIM22,OR52E4,OR56A3,TRIM6-TRIM34,TRIM34,TRIM5,OR56B2P,OR52E5
 
engchuan_15_ASD_discovery_controls-controlHABC_901203_901203
 
 
  Unknown
 
 
  OR52M2P,OR52M1
 
engchuan_15_ASD_discovery_controls-controlHABC_902822_902822
 
 
  Unknown
 
 
  OR51N1P,OR52Y1P,OR52R1,OR51F2,OR51A8P,OR51S1,OR51H1,OR51H2P,OR51A6P,OR51T1,MMP26
 
engchuan_15_ASD_discovery_controls-controlHABC_902856_902856
 
 
  Unknown
 
 
  OR52J3,OR52E2,OR52E1,OR52S1P,OR52E3P,OR52J1P,OR52A4P,OR52A5,OR51A1P,OR52Z1,OR52A1
 
kanduri_15_ASD_discovery_controls-control_split1268
 
 
  Unknown
 
 
  SLC22A18
 
kanduri_15_ASD_discovery_controls-control_split1540
 
 
  Unknown
 
 
  OR51M1
 
krumm_13_ASD_discovery_controls-control11180.s1
 
 
  Paternal
  Simplex
 
  OR51S1,OR51H1,OR51H2P,OR51T1,MMP26
 
krumm_13_ASD_discovery_controls-control11569.s1
 
 
  Paternal
  Simplex
 
  OR52E6,OR52E8,TRIM5
 
krumm_13_ASD_discovery_controls-control12581.s1
 
 
  Paternal
  Simplex
 
  OR10A3,OR10A6
 
krumm_13_ASD_discovery_controls-control12683.s1
 
 
  Maternal
  Simplex
 
  OR51L1,MMP26
 
krumm_15_ASD_discovery_controls-control12415.s2
  Illumina 1MDuo
 
  Paternal
 
 
  OR51L1,MMP26
 
krumm_15_ASD_discovery_controls-control12494.s1
  Illumina 1MDuo
 
  Paternal
 
 
  OR10AB1P,OR5P4P,OR5P1P,OR5P2,CYB5R2,OVCH2
 
krumm_15_ASD_discovery_controls-control12581.s1
  Illumina 1MDuo
 
  Paternal
 
 
  OR10A3,OR10A6
 
krumm_15_ASD_discovery_controls-control12851.s1
  Illumina 1MDuo
 
  Paternal
 
 
  OR52E4,TRIM5
 
krumm_15_ASD_discovery_controls-control13128.s1
  Illumina 1MDuo
 
  Paternal
 
 
  C11orf16
 
krumm_15_ASD_discovery_controls-control13764.s1
  Omni2.5-4v1
 
  Maternal
 
 
  OR2AG1,OR2AG2
 
krumm_15_ASD_discovery_controls-control14042.s1
  Omni2.5-4v1
 
  Paternal
 
 
  HPX,TRIM3
 
krumm_15_ASD_discovery_controls-control14309.s1
  Omni2.5-4v1
 
  Paternal
 
 
  OR51K1P,OR51I1,OR51Q1,OR51I2,HBG2,HBE1,OR51B5
 
levy_11_ASD_discovery_controls-11180.s1
 
 
  Paternal
  Simplex
  NA
  OR51N1P,OR52Y1P,OR52R1,OR51F2,OR51A8P,OR51S1,OR51H1,OR51H2P,OR51T1,MMP26
 
levy_11_ASD_discovery_controls-11245.s1
 
 
  Paternal
  Simplex
  NA
  OR52E7P,OR52Q1P,OR52E4,TRIM5,OR52E5
 
levy_11_ASD_discovery_controls-11416.s1
 
 
  Maternal
  Simplex
  NA
  ZNF143,IPO7
 
levy_11_ASD_discovery_controls-11542.s1
 
 
  Maternal
  Simplex
  NA
  OR51A3P,OR51A4,OR51A2,OR51A5P,MMP26
 
levy_11_ASD_discovery_controls-11590.s1
 
 
  Maternal
  Simplex
  NA
  OR52B1P,OR52B2
 
levy_11_ASD_discovery_controls-12494.s1
 
 
  Paternal
  Simplex
  NA
  OR10AB1P,OR5P4P,OR5P1P,OR5P2,CYB5R2,OVCH2
 
nord_11_ASD_discovery_controls-04C28427
 
 
 
 
 
  OR51B2,OR51B5,OR51B6,OR51M1,OR51B4
 
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-11057.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-11094.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11208.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-11227.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-11227.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ASCL3
 
sanders_11_ASD_discovery_controls-11245.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR52E7P,OR52Q1P,OR52E4,TRIM5,OR52E5
 
sanders_11_ASD_discovery_controls-11265.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-11289.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR52E7P,OR52Q1P,OR52E4,TRIM5,OR52E5
 
sanders_11_ASD_discovery_controls-11309.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-11348.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SBF2
 
sanders_11_ASD_discovery_controls-11374.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ASCL3
 
sanders_11_ASD_discovery_controls-11375.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TRPC2
 
sanders_11_ASD_discovery_controls-11399.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-11422.s1
 
 
  Both parents
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-11473.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-11474.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-11504.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-11521.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-11542.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR51A3P,OR51A4,OR51A2,OR51A5P,MMP26
 
sanders_11_ASD_discovery_controls-11584.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-11590.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR52B1P,OR52B2
 
sanders_11_ASD_discovery_controls-11654.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MRGPRG,MRGPRG-AS1
 
sanders_11_ASD_discovery_controls-11666.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NDUFA5P8,NDUFA5P1
 
sanders_11_ASD_discovery_controls-11714.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SSU72P3,SSU72P7
 
sanders_11_ASD_discovery_controls-11797.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OR51J1,HBG2,HBE1,OR51B5
 
sanders_11_ASD_discovery_controls-11808.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-11835.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OR51J1,HBG2,HBE1,OR51B5
 
sanders_11_ASD_discovery_controls-11964.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NDUFA5P8,NDUFA5P1
 
sanders_11_ASD_discovery_controls-12083.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OR52D1,HBG2,HBE1,OR51B5
 
sanders_11_ASD_discovery_controls-12086.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NDUFA5P8,NDUFA5P1
 
sanders_11_ASD_discovery_controls-12121.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR51A5P,OR51P1P,OR51L1,MMP26
 
sanders_11_ASD_discovery_controls-12152.s1
 
 
  Unknown
  Simplex (quad)
  NA
  NDUFA5P8,NDUFA5P1
 
sanders_11_ASD_discovery_controls-12211.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OR51J1,HBG2,HBE1,OR51B5
 
sanders_11_ASD_discovery_controls-12233.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OR51J1,HBG2,HBE1,OR51B5
 
sanders_11_ASD_discovery_controls-12238.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SWAP70
 
sanders_11_ASD_discovery_controls-12252.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OR51J1,HBG2,HBE1,OR51B5
 
sanders_11_ASD_discovery_controls-12339.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NDUFA5P8
 
sanders_11_ASD_discovery_controls-12444.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ART5,RNU6-1143P,TRPC2,ART1,NUP98,CHRNA10
 
sanders_11_ASD_discovery_controls-12457.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NDUFA5P8,NDUFA5P1
 
sanders_11_ASD_discovery_controls-12460.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SBF2
 
sanders_11_ASD_discovery_controls-12494.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR10AB1P,OR5P4P,OR5P1P,OR5P2,CYB5R2,OVCH2
 
sanders_11_ASD_discovery_controls-12510.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ASCL3
 
sanders_11_ASD_discovery_controls-12581.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR10A6
 
sanders_11_ASD_discovery_controls-12638.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR52J3
 
sanders_11_ASD_discovery_controls-12691.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SBF2
 
sanders_11_ASD_discovery_controls-12851.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR52E7P,OR52Q1P,OR52E4,TRIM5,OR52E5
 
sanders_11_ASD_discovery_controls-12879.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ASCL3
 
sanders_11_ASD_discovery_controls-12907.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NLRP14
 
sanders_11_ASD_discovery_controls-12957.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SBF2
 
sanders_11_ASD_discovery_controls-13080.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ASCL3
 

No Animal Model Data Available
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