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3p14.2CNV Type: Deletion-Duplication


Largest CNV size: 505806 bp

Statistics Box:
Number of Reports: 25



Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Strong association of de novo copy number mutations with autism.
Deletion-Duplication
Structural variation of chromosomes in autism spectrum disorder.
Duplication
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
NA
Deletion
NA
Duplication
NA
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 1700
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 331137
 12
 2
 14
 fry_16_DD/ID/EP/ASD_discovery_cases
 Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
 80
 All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
 Range, <1 yr.-60 yrs.
 45.0% Male
 1287000
 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
 
 
 103386
 3
 0
 3
 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
 
 
 21970
 1
 0
 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.
 
 
 335634
 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
 323000
 3
 1
 4
 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
 1240602
 3
 1
 4
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 1078518
 1
 0
 1
 kousoulidou_13_ASD_discovery_cases
 Cypriot patients with ASD or autistic features
 50
 Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
 Range, 3-18 yrs.
 90% Male
 191300
 1
 0
 1
 kushima_18_ASD_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 1108
 Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
 Median age, 19 years
 78.0% Male
 90519
 1
 0
 1
 kushima_18_SCZ_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 2458
 Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 44 years
 55.0% Male
 378450
 3
 0
 3
 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
 79994
 0
 2
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 63030
 1
 0
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 361000
 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
 
 
 505806
 0
 1
 1
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 4200
 1
 0
 1
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 112181
 2
 0
 2
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 107602
 2
 0
 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
 207993
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 500944
 6
 2
 8
 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
 1294882
 0
 2
 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
 305236
 35
 1
 36
 sebat_07_ASD_discovery_cases
 118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
 195
 Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
 
 
 293096
 1
 1
 2
 toma_13_ASD_discovery_cases
 Affected individuals from 10 multiplex ASD families (nine with two affected probands, one with three affected probands)
 21
 Affected individuals met DSM-IV criteria for autism, Asperger disorder or pervasive developmental disorder not otherwise specified (PDD-NOS), assessed using ADI-R (Autism-Diagnostic Interview-Revised) and ADOS-G (Autism Diagnostic Observation Schedule-Generic) diagnostic instruments.
 Range, 4-29 yrs.
 95.24% Male
 93793
 2
 0
 2
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 187033
 1
 0
 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
 39000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 257790
 12
 3
 15
 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.
 
 
 335634
 0
 0
 0
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 N/A
 2
 0
 2
 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
 63768
 2
 0
 2
 kousoulidou_13_ASD_discovery_controls
 Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
 130
 Controls
 N/A
 N/A
 0
 0
 0
 0
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 0
 0
 0
 0
 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
 79994
 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
 0
 0
 0
 0
 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.
 
 12928
 1
 0
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 500944
 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.
 
 207992
 21
 0
 21
 sebat_07_ASD_discovery_controls
 Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre dEtude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University)Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University
 196
 Controls
 
 
 293096
 0
 0
 0
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 187033
 N/A
 N/A
 N/A
 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
 39000
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fry_16_DD/ID/EP/ASD_discovery_cases
  78 White British, 1 South Asian, 1 Mixed White/South Asian
 aCGH, solid phase hybridization
  Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
 PennCNV
 Illumina BlueFuse Multi v3.1
 Solid phase hybridization (Illumina)
 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
 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
 aCGH (NimbleGen 135K array)
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 kousoulidou_13_ASD_discovery_cases
  Cyprus
 aCGH
  Agilent 400K custom array-CGH
 
 Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
 qPCR
 kushima_18_ASD_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 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
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 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
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 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_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 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
 
 
 sebat_07_ASD_discovery_cases
 
 ROMA
 
 HMM
 S-PLUS
 390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
 toma_13_ASD_discovery_cases
  Spanish, Caucasian
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS
 qPCR
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 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

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_13a_ASD_discovery_controls1
  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_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  kousoulidou_13_ASD_discovery_controls
  Cyprus
  aCGH
  Agilent 400K custom array-CGH
 
  Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
 
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  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
  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
 
 
  sebat_07_ASD_discovery_controls
 
  ROMA
 
  HMM
  S-PLUS
 
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  None
  wintle_10_ASD_discovery_controls_2
  99% European
  N/A
  N/A
  N/A
  N/A
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300372
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 59971193
 59972895
  1703
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14186_3050
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60052906
 60239937
  187032
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14196_3200
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 61141532
 61204990
  63459
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case18168_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60083004
 60290993
  207990
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20137_1254001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60267099
 60313530
  46432
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3009_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 61845125
 61919271
  74147
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3313_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 62977407
 63007407
  30001
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3486_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60210809
 60247359
  36551
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3521_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 62975756
 63007407
  31652
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4152_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60083004
 60290993
  207990
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4210_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 61619547
 61702967
  83421
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5332_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60672875
 61004073
  331199
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6162_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60274494
 60401049
  126556
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8484_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 62975756
 63007407
  31652
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8529_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60083004
 60290993
  207990
 GRCh38
 Deletion
 No
  fry_16_DD/ID/EP/ASD_discovery_cases-caseR660
 21 yrs.
 M
 ASD, intellectual disability and epilepsy
 Clinical features: moderate-to-severe intellectual disability, ASD (autistic features), challenging behavior (aggressive behavior), depression, dysmorphic features (hypertelorism, midface hypoplasia, prognathism). Age of seizure onset: 8 months. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: absence seizures, myoclonic seizures, focal dyscognitive seizures, evolution to bilateral or convulsive seizures.
 Moderate-to-severe intellectual disability
 59750573
 61037683
  1287111
 GRCh38
 Duplication
 Yes
  gai_11_ASD_discovery_cases-AU1407302
 
 
 Autism
 
 
 59948342
 59961969
  13628
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1582302
 
 
 Autism
 
 
 60357868
 60380044
  22177
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1616314
 
 
 Autism
 
 
 60266915
 60370300
  103386
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU078704
 
 
 Autism
 
 
 59921424
 59943393
  21970
 Unknown
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si129
 6
 M
 Autism
 ADOS score: 9. Vineland composite score: 77.
 Mild mental retardation/intellectual disability. Full-scale IQ, 61; Verbal IQ, 58; Non-verbal IQ, 64.
 60093181
 60428808
  335628
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-11878.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
 60549227
 60839296
  290070
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-12058.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
 60569243
 60839972
  270730
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-12279.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
 60099234
 60429227
  329994
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-14265.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
 58812245
 58850185
  37941
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001003
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 60102627
 60855742
  753116
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002488
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 61173973
 61402744
  228772
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004840
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 59743673
 60984329
  1240657
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004909
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 60460013
 60532126
  72114
 GRCh38
 Deletion
 Yes
  kanduri_15_ASD_discovery_cases-case3062
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 59958388
 61036905
  1078518
 Unknown
 Deletion
 No
  kousoulidou_13_ASD_discovery_cases-patient5
 N/A
 M
 Autism
 Autism
 
 60086262
 60277584
  191323
 GRCh38
 Deletion
 Yes
  kushima_18_ASD_discovery_cases-caseASD0009
 25 yrs.
 F
 ASD, ADHD, OCD, epilepsy/seizures
 Behavioral/psychiatric evaluation: ADHD, mood disorders (depressive mood), OCD, eating disorders, echolalia. Epilepsy/seizures: positive for epileptic seizures/epilepsy. Congenital and developmental phenotypes: strabismus. Family history: positive for MDD.
 IQ > 70
 60501297
 60591815
  90519
 GRCh38
 Deletion
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ1060
 67 yrs.
 F
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 60408194
 60672864
  264671
 GRCh38
 Deletion
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ1722
 54 yrs.
 M
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 60438915
 60817364
  378450
 GRCh38
 Deletion
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ2381
 57 yrs.
 F
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 60389119
 60571624
  182506
 GRCh38
 Deletion
 N/A
  larson_17_ASD_discovery_cases-case46
  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.
 
 61145277
 61202170
  56894
 GRCh38
 Duplication
 No
  larson_17_ASD_discovery_cases-case47
  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.
 
 58804827
 58884821
  79995
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11211.p1
 NA
 M
 ASD
 NA
 NA
 59969816
 60032845
  63030
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown146
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 60207732
 60569443
  361712
 GRCh38
 Deletion
 No
  marshall_08_ASD_discovery_cases-NA0067-000
 NA
 M
 ASD
 moderate language delay, severe repetitive behavior, moderate dysmorphism, motor delay, alloimmune ITP
 IQ/LOF Unknown
 61114582
 61620386
  505805
 GRCh38
 Duplication
 Yes
  morrow_08_ASD_discovery_cases-case6801
 NA
 
 ASD
 NA
 NA
 60462000
 60466000
  4200
 Unknown
 Deletion
 No
  mosca_16_DCD_discovery_cases-case106303
 N/A
 M
 DCD
 Ancestry: European. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 60267861
 60314119
  46259
 GRCh38
 Deletion
 No
  mosca_16_DCD_discovery_cases-case121003
 N/A
 M
 DCD
 Ancestry: European. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 60355315
 60467494
  112180
 GRCh38
 Deletion
 No
  nord_11_ASD_discovery_cases-223-1
 
 
 ASD
 
 
 60284938
 60392539
  107602
 Unknown
 Deletion
 No
  nord_11_ASD_discovery_cases-255-1
 
 
 ASD
 
 
 60993360
 61042159
  48800
 Unknown
 Deletion
 No
  pinto_14_ASD_discovery_cases2-case18168_302
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 60083004
 60290993
  207990
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case101464
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 59841384
 59851011
  9628
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case170300
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 61605621
 61615156
  9536
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case57928
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 59831948
 59843515
  11568
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case60701L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 60814214
 60829360
  15147
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case65344
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 61099987
 61600930
  500944
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case68637L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 59891746
 60074408
  182663
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case83152L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 60310452
 60323411
  12960
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-caseL656
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 60635843
 60968263
  332421
 Unknown
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP95-020
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 60402589
 60659401
  256813
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-086
 N/A
 N/A
 ACC-CBLH-PMG
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: N/A. Seizures: yes.
 Developmental delay: yes. Intellectual disability: N/A.
 58915930
 60210809
  1294880
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11109.p1
 4.5
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ 71
 58742398
 58746105
  3708
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11336.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
 62977407
 63007407
  30001
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11399.p1
 11.9
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 100
 60083004
 60294808
  211805
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11429.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
 63142916
 63150904
  7989
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11505.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
 62727168
 62729200
  2033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11645.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
 58725367
 58742746
  17380
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11645.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
 58813141
 58841752
  28612
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11711.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
 60355970
 60478343
  122374
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 62679547
 62708646
  29100
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11878.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
 60550687
 60855984
  305298
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11941.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
 62725627
 62729200
  3574
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11970.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 150; non-verbal IQ, 159; verbal IQ, 130
 61843093
 61849268
  6176
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12091.p1
 4.4
 F
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
 60406634
 60435386
  28753
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12117.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
 60851194
 60858970
  7777
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12149.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
 61825333
 61972349
  147017
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12219.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 136
 60324646
 60431370
  106725
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12219.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 136
 60083004
 60294808
  211805
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12358.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 36; verbal IQ, 36
 58681653
 58695451
  13799
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12445.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 91
 62801180
 62846555
  45376
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12518.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 83
 62679547
 62708646
  29100
 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
 58725367
 58742746
  17380
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12587.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 98; verbal IQ, 98
 62725627
 62729200
  3574
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12619.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
 60417925
 60478343
  60419
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12701.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
 61670300
 61677860
  7561
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12710.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
 62725627
 62729200
  3574
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12790.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
 58813141
 58814158
  1018
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12836.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129
 60603677
 60615320
  11644
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12894.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
 60083004
 60290993
  207990
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12946.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 106
 62725627
 62732986
  7360
 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
 58813141
 58841752
  28612
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13021.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 109; verbal IQ, 98
 62725627
 62739194
  13568
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13065.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
 59150817
 59222748
  71932
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13083.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
 58813141
 58824427
  11287
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13083.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
 58725367
 58735302
  9936
 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
 61095109
 61141532
  46424
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 62725627
 62732986
  7360
 GRCh38
 Deletion
 No
  sebat_07_ASD_discovery_cases-63-562-6612
 NA
 M
 Autism
 NA
 NA
 61072100
 61365196
  293096
 Unknown
 Duplication
 Yes
  sebat_07_ASD_discovery_cases-89-3507-1
 NA
 M
 Autism
 NA
 NA
 60746033
 60847540
  101507
 Unknown
 Deletion
 Yes
  toma_13_ASD_discovery_cases-caseMT_109.3
 13 yrs.
 M
 Autism
 Diagnostic: meets research criteria for Autistic Disorder (ADI-R +; ADOS +; clinical diagnosis (DSM IV-TR+)); calibrated Severity Score = 7; evidence of onset prior to 3 years of age; language delay (phrases delayed). Adaptive behavior: Daily Living Skills: alteration (15th percentile); Communication: alteration (1st percentile); Social-Emotional: alteration (4th percentile). Aberrant behavior: aggressiveness, obsessive. Medical history: nothing of note. Family and developmental history: second of two affected siblings; no family history of ASD; parents with learning problems. Pregnancy and birth: vaginal delivery at 39 weeks; placental insufficiency; augmented labor. Paternal/maternal age at time of conception: 41 yrs./37 yrs.
 Full Scale IQ: 53; Non-Verbal IQ: 64; Verbal IQ: 65
 60493226
 60587019
  93794
 GRCh38
 Deletion
 Yes
  toma_13_ASD_discovery_cases-caseMT_109.4
 25 yrs.
 M
 Autism and intellectual disability
 Diagnostic: meets research criteria for Autistic Disorder (ADI-R +; ADOS +; clinical diagnosis (DSM IV-TR+)) and severe intellectual disability; calibrated Severity Score = 10; evidence of onset prior to 3 years of age; regression (word loss); language delay. Adaptive behavior: Daily Living Skills: alteration (3rd percentile); Communication: alteration (1st percentile); Social-Emotional: alteration (2nd percentile). Aberrant behavior: hyperactivity. Medical history: digestive problems. Family and developmental history: first of two affected siblings; no family history of ASD; parents with learning problems. Pregnancy and birth: vaginal delivery at 37 weeks; augmented labor; no anesthesia; no pregnancy or birth complications. Paternal/maternal age at time of conception: 29 yrs./25 yrs.
 Full Scale IQ: 35; Non-Verbal IQ: 35; Verbal IQ: 37 (severe intellectual disability)
 60493226
 60587019
  93794
 GRCh38
 Deletion
 Yes
  walker_13_ASD_discovery_cases-case8-14186-3050
 N/A
 M
 ASD
 N/A
 N/A
 60052906
 60239937
  187032
 GRCh38
 Deletion
 No
  wintle_10_ASD_discovery_cases-AN14613
 39
 M
 Autism
 Suspected autism
 
 60503242
 60542217
  38976
 GRCh38
 Deletion
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036016962_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  58849098
  58929755
  80658
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036021723_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60351919
  60486476
  134558
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB324004_1007874674
  N/A
  N/A
  Control
  No previous psychiatric history
 
  62977407
  63007407
  30001
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB370005_1007844590
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60083004
  60292042
  209039
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB434334_1007853771
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60083004
  60290993
  207990
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB468914_1007854173
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60402589
  60660379
  257791
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB598008_1007848531
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60613658
  60678910
  65253
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB741318_1007851257
  N/A
  N/A
  Control
  No previous psychiatric history
 
  61845125
  61919271
  74147
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB907447_1007845323
  N/A
  N/A
  Control
  No previous psychiatric history
 
  59502614
  59534038
  31425
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB964915_1007843932
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60448711
  60487082
  38372
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900030_900030
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63597457
  63847374
  249918
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900239_900239
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60690007
  60733690
  43684
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900911_900911
  N/A
  N/A
  Control
  No previous psychiatric history
 
  62975756
  63007407
  31652
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902607_902607
  N/A
  N/A
  Control
  No previous psychiatric history
 
  61755377
  61799451
  44075
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902946_902946
  N/A
  N/A
  Control
  No previous psychiatric history
 
  62975756
  63007407
  31652
  GRCh38
  Deletion
  No
  girirajan_13a_ASD_discovery_controls2-control23
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  NCBI36
  Deletion
  No
  girirajan_13a_ASD_discovery_controls2-control24
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  NCBI36
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split400
  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
 
  62073316
  62137083
  63768
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split773
  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
 
  60616790
  60640906
  24117
  Unknown
  Deletion
  No
  nord_11_ASD_discovery_controls-04C27491
 
 
  Control
 
 
  59831672
  59844599
  12928
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11000.s1
  16.8
  F
  Control (matched sibling)
  NA
  NA
  60550687
  60565158
  14472
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11616.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  59912331
  59914525
  2195
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11625.s1
  17.3
  M
  Control (matched sibling)
  NA
  NA
  58725367
  58742746
  17380
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11625.s1
  17.3
  M
  Control (matched sibling)
  NA
  NA
  58813141
  58841752
  28612
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11657.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  58725367
  58742746
  17380
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11657.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  58813141
  58841752
  28612
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11711.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  60355970
  60478343
  122374
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11766.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  61493633
  61505072
  11440
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11888.s1
  9.6
  M
  Control (matched sibling)
  NA
  NA
  60083004
  60290993
  207990
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11941.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  62725627
  62729200
  3574
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11954.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  59077282
  59107906
  30625
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  60851194
  60863074
  11881
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12210.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  63038692
  63045532
  6841
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12219.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  60324646
  60431370
  106725
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12445.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  58813141
  58841752
  28612
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12510.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  62725627
  62729200
  3574
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12518.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  62679547
  62708646
  29100
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12619.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  60417925
  60478343
  60419
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12836.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  60603677
  60615320
  11644
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13048.s1
  15.6
  F
  Control (matched sibling)
  NA
  NA
  58725367
  58742746
  17380
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13168.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  61095109
  61138584
  43476
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300372
 
 
 Paternal
 
 
 FHIT
 
 engchuan_15_ASD_discovery_cases-case14186_3050
 
 
 Unknown
 
 
 FHIT
 
 engchuan_15_ASD_discovery_cases-case14196_3200
 
 
 Unknown
 
 
 FHIT
 
 engchuan_15_ASD_discovery_cases-case18168_302
 
 
 Unknown
 
 
 FHIT
 
 engchuan_15_ASD_discovery_cases-case20137_1254001
 
 
 Unknown
 
 
 FHIT
 
 engchuan_15_ASD_discovery_cases-case3009_4
 
 
 Unknown
 
 
 PTPRG
 
 engchuan_15_ASD_discovery_cases-case3313_3
 
 
 Unknown
 
 
 LINC00698
 
 engchuan_15_ASD_discovery_cases-case3486_3
 
 
 Unknown
 
 
 FHIT
 
 engchuan_15_ASD_discovery_cases-case3521_3
 
 
 Unknown
 
 
 LINC00698
 
 engchuan_15_ASD_discovery_cases-case4152_1
 
 
 Unknown
 
 
 FHIT
 
 engchuan_15_ASD_discovery_cases-case4210_1
 
 
 Unknown
 
 
 PTPRG
 
 engchuan_15_ASD_discovery_cases-case5332_3
 
 
 Unknown
 
 
 PPIAP70,PPIAP71,FHIT
 
 engchuan_15_ASD_discovery_cases-case6162_4
 
 
 Unknown
 
 
 FHIT
 
 engchuan_15_ASD_discovery_cases-case8484_201
 
 
 Unknown
 
 
 LINC00698
 
 engchuan_15_ASD_discovery_cases-case8529_201
 
 
 Unknown
 
 
 FHIT
 
 fry_16_DD/ID/EP/ASD_discovery_cases-caseR660
 Solid phase hybridization (Illumina)
 
 Paternal
 
 
 MIR548BB,PPIAP70,PPIAP71,FHIT
 
 gai_11_ASD_discovery_cases-AU1407302
 
 
 Inherited
 
 
 FHIT (intronic)
 
 gai_11_ASD_discovery_cases-AU1582302
 
 
 Inherited
 
 
 FHIT (intronic)
 
 gai_11_ASD_discovery_cases-AU1616314
 
 
 Inherited
 
 
 FHIT (intronic)
 
 gai_11_ASD_replication_cases-AU078704
 
 
 Inherited
 
 
 FHIT (intronic)
 
 girirajan_11_ASD_discovery_cases-Si129
 
 
 Unknown
 Simplex
 
 FHIT
 
 girirajan_13a_ASD_discovery_cases-11878.p1
 
 
 Unknown
 Simplex
 Unknown
 MIR548BB,PPIAP70,PPIAP71,FHIT
 
 girirajan_13a_ASD_discovery_cases-12058.p1
 aCGH (NimbleGen 135K array)
 
 De novo
 Simplex
 Possibly segregated
 MIR548BB,PPIAP70,PPIAP71,FHIT
 
 girirajan_13a_ASD_discovery_cases-12279.p1
 
 
 Unknown
 Simplex
 Unknown
 FHIT
 
 girirajan_13a_ASD_discovery_cases-14265.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 C3orf67-AS1,C3orf67
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001003
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR548BB,PPIAP70,PPIAP71,FHIT
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002488
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FHIT
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004840
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR548BB,PPIAP70,PPIAP71,FHIT
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004909
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 FHIT
 
 kanduri_15_ASD_discovery_cases-case3062
 
 
 Maternal
 Unknown
 Unknown
 FHIT
 
 kousoulidou_13_ASD_discovery_cases-patient5
 qPCR
 
 Maternal
 Unknown
 Unknown
 FHIT
 
 kushima_18_ASD_discovery_cases-caseASD0009
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Not simplex
 Unknown
 FHIT
 
 kushima_18_SCZ_discovery_cases-caseSCZ1060
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Unknown
 Unknown
 MIR548BB,FHIT
 
 kushima_18_SCZ_discovery_cases-caseSCZ1722
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Unknown
 Unknown
 MIR548BB,PPIAP70,PPIAP71,FHIT
 
 kushima_18_SCZ_discovery_cases-caseSCZ2381
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Unknown
 Unknown
 FHIT
 
 larson_17_ASD_discovery_cases-case46
 
 
 Unknown
 
 Unknown
 FHIT
 
 larson_17_ASD_discovery_cases-case47
 
 
 Unknown
 
 Unknown
 C3orf67-AS1,C3orf67
 
 levy_11_ASD_discovery_cases-11211.p1
 
 
 Paternal
 Simplex
 Segregated
 FHIT
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown146
 
 
 Paternal
 Unknown
 Unknown
 FHIT
 
 marshall_08_ASD_discovery_cases-NA0067-000
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 FHIT,PTPRG
 
 morrow_08_ASD_discovery_cases-case6801
 
 
 Maternal
 NA
 NA
 FHID
 
 mosca_16_DCD_discovery_cases-case106303
 
 
 Unknown (paternal DNA not available)
 Unknown
 Unknown
 FHIT
 
 mosca_16_DCD_discovery_cases-case121003
 
 
 Unknown (paternal DNA not available)
 Unknown
 Unknown
 FHIT
 
 nord_11_ASD_discovery_cases-223-1
 
 
 Maternal
 
 
 FHIT
 
 nord_11_ASD_discovery_cases-255-1
 
 
 Paternal
 
 
 FHIT
 
 pinto_14_ASD_discovery_cases2-case18168_302
 qPCR
 
 Maternal
 Simplex
 (not tested)
 FHIT
 
 prasad_12_ASD_discovery_cases-case101464
 
 
 Unknown
 Unknown
 Unknown
 FHIT
 
 prasad_12_ASD_discovery_cases-case170300
 
 
 Unknown
 Unknown
 Unknown
 PTPRG
 
 prasad_12_ASD_discovery_cases-case57928
 
 
 Unknown
 Unknown
 Unknown
 FHIT
 
 prasad_12_ASD_discovery_cases-case60701L
 
 
 Unknown
 Unknown
 Unknown
 FHIT
 
 prasad_12_ASD_discovery_cases-case65344
 
 
 Unknown
 Unknown
 Unknown
 PTPRG,FHIT
 
 prasad_12_ASD_discovery_cases-case68637L
 
 
 Unknown
 Unknown
 Unknown
 FHIT
 
 prasad_12_ASD_discovery_cases-case83152L
 
 
 Unknown
 Unknown
 Unknown
 FHIT
 
 prasad_12_ASD_discovery_cases-caseL656
 qPCR
 
 Maternal
 Unknown
 Unknown
 FHIT
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP95-020
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MIR548BB,FHIT
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-086
 qPCR
 
 Maternal
 Unknown
 Unknown
 C3orf67-AS1,FHIT,C3orf67
 
 sanders_11_ASD_discovery_cases-11109.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 C3orf67
 
 sanders_11_ASD_discovery_cases-11336.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 LINC00698
 
 sanders_11_ASD_discovery_cases-11399.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FHIT
 
 sanders_11_ASD_discovery_cases-11429.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11505.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CADPS
 
 sanders_11_ASD_discovery_cases-11645.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 C3orf67
 
 sanders_11_ASD_discovery_cases-11645.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C3orf67-AS1,C3orf67
 
 sanders_11_ASD_discovery_cases-11711.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FHIT
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CADPS
 
 sanders_11_ASD_discovery_cases-11878.p1
 
 
 Paternal
 Simplex (trio)
 NA
 MIR548BB,PPIAP70,PPIAP71,FHIT
 
 sanders_11_ASD_discovery_cases-11941.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CADPS
 
 sanders_11_ASD_discovery_cases-11970.p1
 
 
 Maternal
 Simplex (trio)
 NA
 PTPRG
 
 sanders_11_ASD_discovery_cases-12091.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FHIT
 
 sanders_11_ASD_discovery_cases-12117.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 FHIT
 
 sanders_11_ASD_discovery_cases-12149.p1
 
 
 Paternal
 Simplex (trio)
 NA
 PTPRG
 
 sanders_11_ASD_discovery_cases-12219.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FHIT
 
 sanders_11_ASD_discovery_cases-12219.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FHIT
 
 sanders_11_ASD_discovery_cases-12358.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12445.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-139P,CADPS
 
 sanders_11_ASD_discovery_cases-12518.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CADPS
 
 sanders_11_ASD_discovery_cases-12572.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C3orf67
 
 sanders_11_ASD_discovery_cases-12587.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CADPS
 
 sanders_11_ASD_discovery_cases-12619.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FHIT
 
 sanders_11_ASD_discovery_cases-12701.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 PTPRG
 
 sanders_11_ASD_discovery_cases-12710.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CADPS
 
 sanders_11_ASD_discovery_cases-12790.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C3orf67
 
 sanders_11_ASD_discovery_cases-12836.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FHIT
 
 sanders_11_ASD_discovery_cases-12894.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FHIT
 
 sanders_11_ASD_discovery_cases-12946.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 CADPS
 
 sanders_11_ASD_discovery_cases-12998.p1
 
 
 Unknown
 Simplex (trio)
 NA
 C3orf67-AS1,C3orf67
 
 sanders_11_ASD_discovery_cases-13021.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CADPS
 
 sanders_11_ASD_discovery_cases-13065.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13083.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C3orf67
 
 sanders_11_ASD_discovery_cases-13083.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C3orf67
 
 sanders_11_ASD_discovery_cases-13168.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FHIT
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CADPS
 
 sebat_07_ASD_discovery_cases-63-562-6612
 390K ROMA or Agilent 244K aCGH
 
 De novo
 Simplex
 NA
 FHIT
 
 sebat_07_ASD_discovery_cases-89-3507-1
 390K ROMA or Agilent 244K aCGH
 
 De novo
 Simplex
 NA
 FHIT
 
 toma_13_ASD_discovery_cases-caseMT_109.3
 qPCR
 
 Inherited
 Multiplex
 Segregated
 FHIT
 
 toma_13_ASD_discovery_cases-caseMT_109.4
 qPCR
 
 Inherited
 Multiplex
 Segregated
 FHIT
 
 walker_13_ASD_discovery_cases-case8-14186-3050
 
 
 Unknown
 Simplex
 Unknown
 FHIT
 
 wintle_10_ASD_discovery_cases-AN14613
 Solid phase hybridization (Illumina Human 1M-duo)
 
 Unknown
 Unknown
 Unknown
 FHIT
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036016962_
 
 
  Unknown
 
 
  C3orf67-AS1,C3orf67
 
engchuan_15_ASD_discovery_controls-control110036021723_
 
 
  Unknown
 
 
  FHIT
 
engchuan_15_ASD_discovery_controls-controlB324004_1007874674
 
 
  Unknown
 
 
  LINC00698
 
engchuan_15_ASD_discovery_controls-controlB370005_1007844590
 
 
  Unknown
 
 
  FHIT
 
engchuan_15_ASD_discovery_controls-controlB434334_1007853771
 
 
  Unknown
 
 
  FHIT
 
engchuan_15_ASD_discovery_controls-controlB468914_1007854173
 
 
  Unknown
 
 
  MIR548BB,FHIT
 
engchuan_15_ASD_discovery_controls-controlB598008_1007848531
 
 
  Unknown
 
 
  MIR548BB,FHIT
 
engchuan_15_ASD_discovery_controls-controlB741318_1007851257
 
 
  Unknown
 
 
  PTPRG
 
engchuan_15_ASD_discovery_controls-controlB907447_1007845323
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB964915_1007843932
 
 
  Unknown
 
 
  FHIT
 
engchuan_15_ASD_discovery_controls-controlHABC_900030_900030
 
 
  Unknown
 
 
  SNTN,THOC7,SYNPR,C3orf49
 
engchuan_15_ASD_discovery_controls-controlHABC_900239_900239
 
 
  Unknown
 
 
  PPIAP70,PPIAP71,FHIT
 
engchuan_15_ASD_discovery_controls-controlHABC_900911_900911
 
 
  Unknown
 
 
  LINC00698
 
engchuan_15_ASD_discovery_controls-controlHABC_902607_902607
 
 
  Unknown
 
 
  PTPRG
 
engchuan_15_ASD_discovery_controls-controlHABC_902946_902946
 
 
  Unknown
 
 
  LINC00698
 
girirajan_13a_ASD_discovery_controls2-control23
 
 
  Unknown
 
 
  FHIT
 
girirajan_13a_ASD_discovery_controls2-control24
 
 
  Unknown
 
 
  FHIT
 
kanduri_15_ASD_discovery_controls-control_split400
 
 
  Unknown
 
 
  PTPRG
 
kanduri_15_ASD_discovery_controls-control_split773
 
 
  Unknown
 
 
  FHIT (intronic)
 
nord_11_ASD_discovery_controls-04C27491
 
 
 
 
 
  FHIT
 
sanders_11_ASD_discovery_controls-11000.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FHIT
 
sanders_11_ASD_discovery_controls-11616.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FHIT
 
sanders_11_ASD_discovery_controls-11625.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C3orf67
 
sanders_11_ASD_discovery_controls-11625.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C3orf67-AS1,C3orf67
 
sanders_11_ASD_discovery_controls-11657.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C3orf67
 
sanders_11_ASD_discovery_controls-11657.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C3orf67-AS1,C3orf67
 
sanders_11_ASD_discovery_controls-11711.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FHIT
 
sanders_11_ASD_discovery_controls-11766.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11888.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FHIT
 
sanders_11_ASD_discovery_controls-11941.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CADPS
 
sanders_11_ASD_discovery_controls-11954.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FHIT
 
sanders_11_ASD_discovery_controls-12210.s1
 
 
  Unknown
  Simplex (quad)
  NA
  LINC00698
 
sanders_11_ASD_discovery_controls-12219.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FHIT
 
sanders_11_ASD_discovery_controls-12445.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C3orf67-AS1,C3orf67
 
sanders_11_ASD_discovery_controls-12510.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CADPS
 
sanders_11_ASD_discovery_controls-12518.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CADPS
 
sanders_11_ASD_discovery_controls-12619.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FHIT
 
sanders_11_ASD_discovery_controls-12836.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FHIT
 
sanders_11_ASD_discovery_controls-13048.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C3orf67
 
sanders_11_ASD_discovery_controls-13168.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FHIT
 

No Animal Model Data Available
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