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3p12.3CNV Type: Deletion-Duplication


Largest CNV size: 584948 bp

Statistics Box:
Number of Reports: 21



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.
Duplication
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
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.
Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Identification of rare copy number variants in high burden schizophrenia families.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
NA
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chung_11_ASD_discovery_cases
 Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
 1
 ASD (ADI-R and ADOS, Module 3)
 12
 Female
 212800
 1
 0
 1
 dabell_13_ASD/DD/ID_discovery_cases
 Prenatal and postnatal patients tested between Feb. 2008 and June 2012 by Signature Genomics Laboratories using aCGH platforms providing coverage over NRXN1
 30065
 Most common indications for study: intellectual disability (ID), developmental delay (DD), and/or multiple congenital anomalies
 N/A
 N/A
 2915786
 1
 0
 1
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 107704
 1
 1
 2
 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
 93000
 2
 0
 2
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 152392
 3
 1
 4
 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
 
 
 103829
 2
 0
 2
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 690430
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 1663067
 2
 5
 7
 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
 147988
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 147988
 0
 1
 1
 leblond_12_ASD_replication_cases
 Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
 2
 1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
 NA
 100% Male
 176977
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 31466
 1
 0
 1
 li_18_ASD_discovery_cases
 Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
 13
 Diagnosis of ASD made according to DSM-IV
 Mean age, 4.56 0.97 years
 92.31% Male
 257413
 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
 
 
 55000
 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)
 
 
 149824
 2
 0
 2
 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
 122954
 5
 1
 6
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 165328
 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
 81512
 0
 1
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 584948
 14
 8
 22
 soueid_16_ASD_discovery_cases
 Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
 41
 All cases fulfilled DSM-V criteria for autism
 Range, 3-18 yrs.
 92.68% Male
 1218000
 0
 2
 2
 soueid_16_DD/ID_discovery_cases
 Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 35
 Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 N/A
 N/A
 1218000
 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
 291426
 1
 12
 13

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
 97907
 5
 3
 8
 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
 348156
 1
 0
 1
 guo_17_ASD_discovery_controls
 Control subjects screened for rare, large (>1 Mb) CNVs
 988
 No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
 Mean, 34.3 years
 N/A
 1138458
 0
 1
 1
 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
 11636
 1
 0
 1
 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
 146788
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 146788
 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
 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)
 2084755
 1
 1
 2
 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)
 122954
 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.
 
 326225
 6
 8
 14
 soueid_16_ASD_discovery_controls
 Control cohort of normal participants
 37
 Control
 N/A
 51.35% Male
 0
 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
 291426
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 chung_11_ASD_discovery_cases
  Scottish-Canadian
 Array SNP
  Affymetrix 6.0
 HMM
 Affymetrix Genotyping Console v.2.1, Birdseed v.2
 
 dabell_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  Signature Genomics SignatureChip OS v1.0 (105K), v2.0 (135K), or v3.0 (135K) (manufactured by Agilent) or BACs aCGH
 
 
 None
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 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
 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
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 leblond_12_ASD_replication_cases
  1 Canadian, 1 French
 Solid phase hybridization
  Illumina 1M SNP array
 QuantiSNP, PennCNV
 
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 aCGH (Agilent 244K)
 li_18_ASD_discovery_cases
  Chinese
 Low-coverage WGS
  Illumina HiSeq 2000 or 2500 analyzers
 PSCC
 
 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
 PCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by 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
 
 
 soueid_16_ASD_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 soueid_16_DD/ID_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 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_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
 
 
  guo_17_ASD_discovery_controls
  Chinese Han
  Solid phase hybridization
  Illumina 610K BeadChip
  PennCNV
 
  qPCR
  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)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  soueid_16_ASD_discovery_controls
  Lebanon
  Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
  Affymetrix ChAS
  None
  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
  chung_11_ASD_discovery_cases-proband
 12
 F
 ASD
 Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
 WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
 75377944
 75590743
  212800
 GRCh38
 Deletion
 No
  dabell_13_ASD/DD/ID_discovery_cases-patient26
 15 mos.
 F
 Developmental delay
 Indication for study: developmental delay. Neurological features: developmental delay, hypotonia, myoclonic choreiform movements, normal EEG. Behavioral features: short attention span. Dysmorphic features: midface hypoplasia, depressed nasal bridge, low posterior hairline, hypo-/hyperpigmentation patterns. Ophthalmologic features: strabismus. Skeletal/joint features: none. Other anomalies: none. Growth parameters: height 10th-25th %ile; weight 5th %ile; OFC 50th %ile. Family history: mother (not tested) with learning disability.
 Developmental delay
 76354051
 79269838
  2915788
 GRCh38
 Deletion
 No
  davis_09_ASD_discovery_cases-AU0616304
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 76731528
 76839232
  107704
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU0616304
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 76839232
 76904813
  65581
 Unknown
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300159
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 76582825
 76675575
  92751
 GRCh38
 Deletion
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300213
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 76500732
 76582884
  82153
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14023_480
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 80592951
 80696166
  103216
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16042_1571055001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 74936368
 74994078
  57711
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1962_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 75519068
 75671460
  152393
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4224_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 79199678
 79253680
  54003
 GRCh38
 Deletion
 No
  gai_11_ASD_replication_cases-AU0616303
 
 
 Autism
 
 
 76735829
 76839657
  103829
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU0616304
 
 
 Autism
 
 
 76735829
 76839657
  103829
 Unknown
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-13094.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
 78168697
 78859128
  690432
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001228
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 78221882
 79465461
  1243580
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002031
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 76974990
 77050465
  75476
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004508
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 79595164
 81258230
  1663067
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004721
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 74671601
 75422736
  751136
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004850
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 80367579
 80994156
  626578
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005080
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 80367579
 80994156
  626578
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005333
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 78139492
 78690548
  551057
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case13094.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13094. SRS score of 67.
 Full-scale IQ (FSIQ) score of 71.
 78598912
 78746900
  147989
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case13094.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 78598912
 78746900
  147989
 GRCh38
 Duplication
 Yes
  leblond_12_ASD_replication_cases-Pintocase5237_3
 NA
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
 Below average non-verbal IQ (<1st %ile)
 75370585
 75547561
  176977
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11479.p1
 NA
 M
 ASD
 NA
 NA
 80525509
 80556974
  31466
 GRCh38
 Deletion
 Yes
  li_18_ASD_discovery_cases-case6501
 N/A
 M
 ASD
 Diagnosis of ASD made according to DSM-IV
 
 76665600
 76923013
  257414
 GRCh38
 Deletion
 No
  marshall_08_ASD_discovery_cases-SK0152-003
 NA
 M
 ASD
 RL/EL moderate/sever delay, severe speech unintelligibility, moderate repetitive behavior, hypotonia
 LOF 31
 78770160
 78825160
  55001
 GRCh38
 Duplication
 Yes
  morrow_08_ASD_discovery_cases-case5801
 NA
 
 ASD
 NA
 NA
 75476955
 75626779
  149824
 Unknown
 Homozygous deletion
 Yes
  prasad_12_ASD_discovery_cases-case156900
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 77559671
 77571280
  11610
 Unknown
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case52335
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 77559671
 77571280
  11610
 Unknown
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case60674-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 76160647
 76217454
  56808
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case63206
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 76166633
 76177715
  11083
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case85179L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 78905287
 78969329
  64043
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case96280L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 80897319
 81020272
  122954
 Unknown
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_611
 1 yr.
 M
 Developmental delay
 Incomplete parental clinical history.
 Global developmental delay
 79401309
 79566636
  165328
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-044
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 75737289
 75818800
  81512
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11059.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 103; verbal IQ, 119
 76866702
 76891304
  24603
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11073.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 76034795
 76045070
  10276
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11085.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 68; verbal IQ, 51
 75512190
 75584997
  72808
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11167.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
 79926310
 80511258
  584949
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11250.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
 77712985
 77715949
  2965
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11252.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
 77138890
 77151014
  12125
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11283.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 132; verbal IQ 84
 75523048
 75587819
  64772
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11343.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
 75537504
 75587819
  50316
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11696.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
 76702861
 76804177
  101317
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11794.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
 76034795
 76045070
  10276
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12052.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
 75512190
 75587819
  75630
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12063.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 96; verbal IQ, 82
 77431650
 77436987
  5338
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12087.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 108
 78378749
 78422040
  43292
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12228.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 117; verbal IQ, 90
 75478991
 75587819
  108829
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12252.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
 81545430
 81592980
  47551
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12265.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 96; verbal IQ, 78
 74496626
 74557869
  61244
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 75537504
 75587819
  50316
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12507.p1
 18
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 73; verbal IQ, 100
 80495233
 80511258
  16026
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12534.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
 77659454
 77665681
  6228
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12888.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 19
 75555318
 75587819
  32502
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12939.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
 75098965
 75117345
  18381
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13013.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
 76019242
 76048743
  29502
 GRCh38
 Deletion
 No
  soueid_16_ASD_discovery_cases-caseBAK40
 N/A
 M
 Autism
 Case fulfilled DSM-V criteria for autism; no other information available
 
 75622820
 75858903
  236084
 GRCh38
 Duplication
 No
  soueid_16_ASD_discovery_cases-caseSAI36
 N/A
 
 Autism
 Case fulfilled DSM-V criteria for autism; no other information available
 
 75044179
 76262148
  1217970
 GRCh38
 Duplication
 No
  soueid_16_DD/ID_discovery_cases-case8
 N/A
 N/A
 Developmental delay/intellectual disability
 
 
 75044179
 76262148
  1217970
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case103
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 75590344
 75881769
  291426
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case104
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 75590344
 75881769
  291426
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case105
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 75590344
 75881769
  291426
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case106
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 75590344
 75881769
  291426
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case107
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 75590344
 75881769
  291426
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case108
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 75590344
 75881769
  291426
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case109
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 75590344
 75881769
  291426
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case110
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 75590344
 75881769
  291426
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case111
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 75590344
 75881769
  291426
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case112
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 75590344
 75881769
  291426
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case113
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 76024472
 76048843
  24372
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case114
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 77202032
 77258121
  56090
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case115
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 79391504
 79647258
  255755
 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-control110036023638_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  76731340
  76776531
  45192
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB272356_1007841423
  N/A
  N/A
  Control
  No previous psychiatric history
 
  80487091
  80536305
  49215
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB395840_1007872297
  N/A
  N/A
  Control
  No previous psychiatric history
 
  74929678
  75002411
  72734
  GRCh38
  Homozygous deletion
  No
  engchuan_15_ASD_discovery_controls-controlB855930_1007853688
  N/A
  N/A
  Control
  No previous psychiatric history
 
  80732575
  80784023
  51449
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900029_900029
  N/A
  N/A
  Control
  No previous psychiatric history
 
  76965347
  77004364
  39018
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902564_902564
  N/A
  N/A
  Control
  No previous psychiatric history
 
  76166494
  76264401
  97908
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902851_902851
  N/A
  N/A
  Control
  No previous psychiatric history
 
  79613927
  79697112
  83186
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-11010113049
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  75590911
  75939067
  348157
  GRCh38
  Deletion
  No
  guo_17_ASD_discovery_controls-controlPY1296
  N/A
  N/A
  Control
  No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
 
  74468262
  75606719
  1138458
  GRCh38
  Duplication
  Yes
  kanduri_15_ASD_discovery_controls-control_split437
  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
 
  75457858
  75469493
  11636
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control13094.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 13094. SRS score of 45.
 
  78600112
  78746900
  146789
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control13094.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  78600112
  78746900
  146789
  GRCh38
  Duplication
  Yes
  poultney_13_ASD_discovery_controls-control04C36576A
  N/A
  M
  Control
  NIMH Control (NIMH ID 91174)
 
  77040784
  79125539
  2084756
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C41920
  N/A
  M
  Control
  NIMH Control (NIMH ID 55831)
 
  77477412
  77644906
  167495
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11252.s1
  11.4
  M
  Control (matched sibling)
  NA
  NA
  77138890
  77151014
  12125
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11696.s1
  16.8
  M
  Control (matched sibling)
  NA
  NA
  76702861
  76808814
  105954
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11724.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  78369889
  78394901
  25013
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11920.s1
  18.3
  M
  Control (matched sibling)
  NA
  NA
  79051880
  79065931
  14052
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11924.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  75173786
  75500011
  326226
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11940.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  75555318
  75570510
  15193
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12063.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  77431650
  77436987
  5338
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12233.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  75537504
  75568684
  31181
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12252.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  81545430
  81595760
  50331
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12275.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  75570510
  75587819
  17310
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12888.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  75570510
  75587819
  17310
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12939.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  75098965
  75117345
  18381
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13051.s1
  9.4
  F
  Control (matched sibling)
  NA
  NA
  75555318
  75587819
  32502
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13072.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  75555318
  75587819
  32502
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 chung_11_ASD_discovery_cases-proband
 
 
 Paternal
 Simplex
 NA
 LSP1P2,SNRPCP10,RPS3AP15,ALG1L6P,FAM86DP,LINC02018,ENPP7P2
 
 dabell_13_ASD/DD/ID_discovery_cases-patient26
 
 
 Unknown
 Unknown
 Unknown
 RNU6-386P,VDAC1P7,RNU6-217P,LINC02077,RN7SL647P,RN7SKP61,MRPS17P3,RN7SL751P,ROBO2,ROBO1
 
 davis_09_ASD_discovery_cases-AU0616304
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 davis_09_ASD_discovery_cases-AU0616304
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300159
 
 
 Paternal
 
 
 ROBO2
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300213
 
 
 Unknown
 
 
 ROBO2
 
 engchuan_15_ASD_discovery_cases-case14023_480
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case16042_1571055001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case1962_301
 
 
 Unknown
 
 
 SNRPCP10,RPS3AP15,OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,RPL23AP49
 
 engchuan_15_ASD_discovery_cases-case4224_1
 
 
 Unknown
 
 
 ROBO1
 
 gai_11_ASD_replication_cases-AU0616303
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU0616304
 
 
 Inherited
 
 
 0 genes
 
 girirajan_13a_ASD_discovery_cases-13094.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 MRPS17P3,ROBO1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001228
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MRPS17P3,RN7SL751P,ROBO1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002031
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ROBO2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004508
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 HMGB1P38,OSBPL9P1,HNRNPA3P8,LINC02050,LINC02027,ROBO1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004721
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NIPA2P2,RN7SL294P,MIR4444-2,HNRNPA3P6,OR7E66P,OR7E22P,OR7E55P,LSP1P2,MYLKP1,ALG1L6P,FAM86DP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004850
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 LINC02050,LINC02027
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005080
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC02050,LINC02027
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005333
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RN7SKP61,MRPS17P3,ROBO1
 
 krumm_13_ASD_discovery_cases-case13094.p1
 
 
 Paternal
 Simplex
 Not segregated
 ROBO1
 
 krumm_15_ASD_discovery_cases-case13094.p1
 1M-Duov3
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ROBO1
 
 leblond_12_ASD_replication_cases-Pintocase5237_3
 
 
 Maternal
 
 
 OR7E55P,LSP1P2,SNRPCP10,RPS3AP15,ALG1L6P,FAM86DP,LINC02018,ENPP7P2
 
 levy_11_ASD_discovery_cases-11479.p1
 aCGH (Agilent 244K)
 
 De novo
 Simplex
 Segregated
 
 
 li_18_ASD_discovery_cases-case6501
 
 
 Unknown
 Simplex
 Unknown
 ROBO2
 
 marshall_08_ASD_discovery_cases-SK0152-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 ROBO1
 
 morrow_08_ASD_discovery_cases-case5801
 PCR
 
 Both parents
 NA
 NA
 Noncoding nearest 5' of CNTN3
 
 prasad_12_ASD_discovery_cases-case156900
 qPCR
 
 Maternal
 Multiplex
 Not segregated (deletion present in unaffected sibling)
 ROBO2
 
 prasad_12_ASD_discovery_cases-case52335
 qPCR
 
 Unknown
 Multiplex
 Segregated
 ROBO2
 
 prasad_12_ASD_discovery_cases-case60674-L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case63206
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case85179L
 
 
 Unknown
 Unknown
 Unknown
 ROBO1
 
 prasad_12_ASD_discovery_cases-case96280L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 quintela_17_DD/ID_discovery_cases-caseID_611
 
 
 Maternal
 
 Unknown
 MIR3923,ROBO1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-044
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MIR4273,ZNF717
 
 sanders_11_ASD_discovery_cases-11059.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 ROBO2
 
 sanders_11_ASD_discovery_cases-11073.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 ROBO2
 
 sanders_11_ASD_discovery_cases-11085.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 SNRPCP10,RPS3AP15
 
 sanders_11_ASD_discovery_cases-11167.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 HMGB1P38,OSBPL9P1,HNRNPA3P8
 
 sanders_11_ASD_discovery_cases-11250.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11252.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ROBO2
 
 sanders_11_ASD_discovery_cases-11283.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 RPS3AP15
 
 sanders_11_ASD_discovery_cases-11343.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RPS3AP15
 
 sanders_11_ASD_discovery_cases-11696.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ROBO2
 
 sanders_11_ASD_discovery_cases-11794.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ROBO2
 
 sanders_11_ASD_discovery_cases-12052.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 SNRPCP10,RPS3AP15
 
 sanders_11_ASD_discovery_cases-12063.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ROBO2
 
 sanders_11_ASD_discovery_cases-12087.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12228.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SNRPCP10,RPS3AP15,ENPP7P2
 
 sanders_11_ASD_discovery_cases-12252.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GBE1
 
 sanders_11_ASD_discovery_cases-12265.p1
 
 
 Unknown
 Simplex (trio)
 NA
 CNTN3
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Unknown
 Simplex (trio)
 NA
 RPS3AP15
 
 sanders_11_ASD_discovery_cases-12507.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12534.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12888.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12939.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13013.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ROBO2
 
 soueid_16_ASD_discovery_cases-caseBAK40
 
 
 De novo
 Simplex
 
 UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
 
 soueid_16_ASD_discovery_cases-caseSAI36
 
 
 Paternal
 
 
 NIPA2P2,RN7SL294P,MIR4444-2,HNRNPA3P6,OR7E66P,OR7E22P,OR7E55P,LSP1P2,SNRPCP10,RPS3AP15,OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,MYLKP1,ALG1L6P,FAM86DP,LINC02018,ENPP7P2,LINC00960,RPL23AP49,ZNF717,ROBO2
 
 soueid_16_DD/ID_discovery_cases-case8
 
 
 Unknown
 Unknown
 Unknown
 NIPA2P2,RN7SL294P,MIR4444-2,HNRNPA3P6,OR7E66P,OR7E22P,OR7E55P,LSP1P2,SNRPCP10,RPS3AP15,OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,MYLKP1,ALG1L6P,FAM86DP,LINC02018,ENPP7P2,LINC00960,RPL23AP49,ZNF717,ROBO2
 
 yin_16_ASD_discovery_cases-case103
 
 
 Unknown
 Unknown
 Unknown
 OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
 
 yin_16_ASD_discovery_cases-case104
 
 
 Unknown
 Unknown
 Unknown
 OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
 
 yin_16_ASD_discovery_cases-case105
 
 
 Unknown
 Unknown
 Unknown
 OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
 
 yin_16_ASD_discovery_cases-case106
 
 
 Unknown
 Unknown
 Unknown
 OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
 
 yin_16_ASD_discovery_cases-case107
 
 
 Unknown
 Unknown
 Unknown
 OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
 
 yin_16_ASD_discovery_cases-case108
 
 
 Unknown
 Unknown
 Unknown
 OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
 
 yin_16_ASD_discovery_cases-case109
 
 
 Unknown
 Unknown
 Unknown
 OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
 
 yin_16_ASD_discovery_cases-case110
 
 
 Unknown
 Unknown
 Unknown
 OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
 
 yin_16_ASD_discovery_cases-case111
 
 
 Unknown
 Unknown
 Unknown
 OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
 
 yin_16_ASD_discovery_cases-case112
 
 
 Unknown
 Unknown
 Unknown
 OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
 
 yin_16_ASD_discovery_cases-case113
 
 
 Unknown
 Unknown
 Unknown
 ROBO2
 
 yin_16_ASD_discovery_cases-case114
 
 
 Unknown
 Unknown
 Unknown
 ROBO2
 
 yin_16_ASD_discovery_cases-case115
 
 
 Unknown
 Unknown
 Unknown
 MIR3923,ROBO1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036023638_
 
 
  Unknown
 
 
  ROBO2
 
engchuan_15_ASD_discovery_controls-controlB272356_1007841423
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB395840_1007872297
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB855930_1007853688
 
 
  Unknown
 
 
  LINC02050
 
engchuan_15_ASD_discovery_controls-controlHABC_900029_900029
 
 
  Unknown
 
 
  ROBO2
 
engchuan_15_ASD_discovery_controls-controlHABC_902564_902564
 
 
  Unknown
 
 
  ROBO2
 
engchuan_15_ASD_discovery_controls-controlHABC_902851_902851
 
 
  Unknown
 
 
  ROBO1
 
girirajan_13b_ASD_discovery_controls-11010113049
 
 
  Unknown
 
 
  OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717,ROBO2
 
guo_17_ASD_discovery_controls-controlPY1296
  qPCR
 
  Unknown
 
 
  NIPA2P2,RN7SL294P,MIR4444-2,HNRNPA3P6,OR7E66P,OR7E22P,OR7E55P,LSP1P2,SNRPCP10,RPS3AP15,OR7E121P,MYLKP1,ALG1L6P,FAM86DP,LINC02018,ENPP7P2,CNTN3
 
kanduri_15_ASD_discovery_controls-control_split437
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MIR4444-1(dist=194159),FAM86DP(dist=1210)
 
krumm_13_ASD_discovery_controls-control13094.s1
 
 
  Paternal
  Simplex
 
  ROBO1
 
krumm_15_ASD_discovery_controls-control13094.s1
  1M-Duov3
 
  Paternal
 
 
  ROBO1
 
poultney_13_ASD_discovery_controls-control04C36576A
 
 
  Unknown
 
 
  RNU6-386P,VDAC1P7,RNU6-217P,LINC02077,RN7SL647P,RN7SKP61,MRPS17P3,RN7SL751P,ROBO2,ROBO1
 
poultney_13_ASD_discovery_controls-control05C41920
 
 
  Unknown
 
 
  ROBO2
 
sanders_11_ASD_discovery_controls-11252.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ROBO2
 
sanders_11_ASD_discovery_controls-11696.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ROBO2
 
sanders_11_ASD_discovery_controls-11724.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11920.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ROBO1
 
sanders_11_ASD_discovery_controls-11924.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RN7SL294P,MIR4444-2,HNRNPA3P6,OR7E66P,OR7E22P,OR7E55P,LSP1P2,MYLKP1,ALG1L6P,FAM86DP,LINC02018,ENPP7P2
 
sanders_11_ASD_discovery_controls-11940.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12063.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ROBO2
 
sanders_11_ASD_discovery_controls-12233.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RPS3AP15
 
sanders_11_ASD_discovery_controls-12252.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GBE1
 
sanders_11_ASD_discovery_controls-12275.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12888.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12939.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13051.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13072.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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