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19q13.41CNV Type: Deletion-Duplication


Largest CNV size: 409601 bp

Statistics Box:
Number of Reports: 18



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
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
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 283505
 11
 21
 32
 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
 
 
 78479
 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
 311837
 1
 1
 2
 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
 485393
 1
 2
 3
 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
 316660
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 316143
 2
 3
 5
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 36200
 0
 2
 2
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 33483
 0
 1
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 409601
 0
 2
 2
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 79000
 0
 2
 2
 newbury_12_ASD/CAS_discovery_cases
 Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
 1
 Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
 14 yrs.
 Male
 17466
 1
 0
 1
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
 Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
 6
 Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
 Range, 8-19 yrs.
 83.33% Male
 114806
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 146977
 1
 6
 7
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 278214
 0
 4
 4
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 367056
 0
 1
 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
 84492
 0
 6
 6
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 131155
 8
 29
 37
 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
 33471
 3
 3
 6

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
 219217
 6
 22
 28
 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.
 
 
 303113
 0
 1
 1
 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
 0
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 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
 307514
 0
 2
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 307514
 1
 2
 3
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 36200
 0
 2
 2
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 76641
 1
 0
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 278214
 0
 1
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 367056
 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.
 
 129900
 8
 20
 28
 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
 33471
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 newbury_12_ASD/CAS_discovery_cases
  European (Caucasian)
 aCGH
  Agilent 244K
 
 Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
 None
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
  Italy
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Cytogenomic Software v2.7
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 
 
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
  None
  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
 
  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
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_cases-case1171_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53426434
 53501685
  75252
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1199_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 52410980
 52492851
  81872
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1252_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 52775700
 52922676
  146977
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13054_643
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53429042
 53504765
  75724
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13120_1373
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1391_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 52828661
 52867092
  38432
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14029_560
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53407265
 53457271
  50007
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14058_1000
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53429042
 53508130
  79089
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14309_4260
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53190970
 53239881
  48912
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14343_4570
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53604211
 53751932
  147722
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case2187_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53608314
 53848705
  240392
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3049_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53426434
 53508130
  81697
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3308_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53429042
 53502054
  73013
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3507_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 52668524
 52842068
  173545
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3510_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53097592
 53129643
  32052
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4233_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4234_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53426434
 53510924
  84491
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4241_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4282_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53644791
 53872868
  228078
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4400_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5029_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5051_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 52828661
 52870779
  42119
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5057_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 52801989
 52855636
  53648
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5085_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 52620294
 52654770
  34477
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5099_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5335_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53426434
 53510924
  84491
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5465_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53429042
 53510924
  81883
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5513_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 52422531
 52706036
  283506
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5527_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53372855
 53445133
  72279
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6041_2
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6149_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53426434
 53508130
  81697
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8650_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53426434
 53509026
  82593
 GRCh38
 Deletion
 No
  gai_11_ASD_replication_cases-AU055303
 
 
 Autism
 
 
 57609438
 57687916
  78479
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU055304
 
 
 Autism
 
 
 57609438
 57687916
  78479
 Unknown
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-11233.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
 53093362
 53405199
  311838
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-AU1400301
 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
 53093362
 53405199
  311838
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001905
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 53553042
 53899466
  346425
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002016
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 52707235
 53192628
  485394
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004159
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 53601298
 53773028
  171731
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case12705.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12705. SRS score of 75.
 Full-scale IQ (FSIQ) score of 99.
 51723923
 52040583
  316661
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11121.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 52349154
 52406645
  57492
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11573.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 51768658
 52059293
  290636
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13351.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 51723923
 51824810
  100888
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13654.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 51768658
 52084801
  316144
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13774.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 51964853
 51969133
  4281
 GRCh38
 Deletion
 Yes
  levy_11_ASD_discovery_cases-11233.p1
 NA
 F
 ASD
 NA
 NA
 53096592
 53126493
  29902
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11455.p1
 NA
 M
 ASD
 NA
 NA
 53592231
 53628430
  36200
 GRCh38
 Duplication
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 13 yrs.
 F
 ASD
 Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
 Completed secondary school degree with exception of mathematics
 53015494
 53048976
  33483
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-NA0004-000
 NA
 M
 ASD
 NA
 NA
 53439900
 53763518
  323619
 GRCh38
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-NA0111-000
 NA
 M
 ASD
 NA
 NA
 52641535
 53051135
  409601
 GRCh38
 Duplication
 Yes
  nava_13_ASD_discovery_cases-Fam607Proband7291
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 53432161
 53510924
  78764
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam703Proband7947
 N/A
 M
 ASD
 Additional clinical profile info N/A
 No ID
 53432161
 53510924
  78764
 GRCh38
 Duplication
 No
  newbury_12_ASD/CAS_discovery_cases-case1
 14 yrs.
 M
 PDD-NOS and CAS
 Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
 
 51731948
 51749414
  17467
 GRCh38
 Deletion
 No
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
 N/A
 M
 ASD and ADHD
 Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
 TIQ score of 109
 52814969
 52929775
  114807
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case1171_5
 NA
 M
 ASD
 NA
 NA
 53426434
 53501685
  75252
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case1199_3
 NA
 M
 ASD
 NA
 NA
 52410980
 52492851
  81872
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case1252_4
 NA
 M
 ASD
 NA
 NA
 52775700
 52922676
  146977
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case1391_302
 NA
 F
 ASD
 NA
 NA
 52828661
 52867092
  38432
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5029_4
 NA
 M
 ASD
 NA
 NA
 53426434
 53510924
  84491
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5057_4
 NA
 M
 ASD
 NA
 NA
 52801989
 52855636
  53648
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5099_3
 NA
 M
 ASD
 NA
 NA
 53426434
 53510924
  84491
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case04HI2957A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
 
 52114816
 52160591
  45776
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0922A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
 
 51940207
 52160591
  220385
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0933A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
 
 52114816
 52168072
  53257
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI1053A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU030604; NDAR ID NDAR_INVVH189XCE)
 
 51768657
 52046870
  278214
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case73891
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 57885254
 58252309
  367056
 Unknown
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1018-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: yes.
 53431351
 53514004
  82654
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1047-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: no.
 Developmental delay: yes. Intellectual disability: no.
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1230-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: yes. Seizures: yes.
 Developmental delay: yes. Intellectual disability: unknown.
 53429042
 53502054
  73013
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP95-025
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-008
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 53426434
 53509026
  82593
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-121
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11006.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 99
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11098.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
 53097592
 53122859
  25268
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11114.p1
 8.8
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 53429042
 53502054
  73013
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11129.p1
 4.7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
 52828661
 52842068
  13408
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11172.p1
 15.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
 52828661
 52846597
  17937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11233.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
 53097592
 53124524
  26933
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11252.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11277.p1
 10.2
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
 52828661
 52855636
  26976
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11339.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 62; verbal IQ, 93
 52828661
 52855636
  26976
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11455.p1
 7.6
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
 53595743
 53625517
  29775
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11512.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 22
 53407265
 53419262
  11998
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11512.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 22
 53455276
 53502054
  46779
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11575.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 105; verbal IQ, 100
 52828661
 52848448
  19788
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11584.p1
 11.5
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 75; verbal IQ, 73
 53399360
 53468095
  68736
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11765.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11825.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
 52828661
 52855636
  26976
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11917.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 115; verbal IQ, 71
 53228501
 53243685
  15185
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11928.p1
 12.6
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11931.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
 52828661
 52855636
  26976
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11938.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
 52828661
 52855636
  26976
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11962.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
 53138649
 53139647
  999
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11990.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 81; verbal IQ, 78
 52828661
 52855636
  26976
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12008.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
 52828661
 52855636
  26976
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12052.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
 53685201
 53816356
  131156
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12060.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
 53426434
 53510924
  84491
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12279.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
 52828661
 52855636
  26976
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12355.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
 52828661
 52848448
  19788
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12373.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 0; non-verbal IQ, 77; verbal IQ, 40
 53426434
 53514004
  87571
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12434.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 121; verbal IQ, 106
 52828661
 52855636
  26976
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12441.p1
 13.7
 M
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 18
 53228501
 53243685
  15185
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12460.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
 52828661
 52848448
  19788
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12524.p1
 6.4
 F
 Autism
 NA
 Full-scale IQ, 146; non-verbal IQ, 130; verbal IQ, 166
 53097592
 53124524
  26933
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12619.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
 52828661
 52855636
  26976
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12628.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 102; verbal IQ, 120
 53429042
 53510924
  81883
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12669.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 91; verbal IQ, 120
 53426434
 53509026
  82593
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13056.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
 52699054
 52749264
  50211
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13323.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 101
 52496241
 52520711
  24471
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case558
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 51623777
 51644932
  21156
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case559
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 52800956
 52813075
  12120
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case560
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 52800956
 52813075
  12120
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case561
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 52853920
 52866760
  12841
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case562
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 53015261
 53041712
  26452
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case563
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 53015494
 53048964
  33471
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036015782_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53429042
  53510924
  81883
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036016137_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  52706036
  52764455
  58420
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036016178_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53426434
  53510924
  84491
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036020485_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53419262
  53502054
  82793
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036020733_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53429042
  53510924
  81883
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036020865_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53429042
  53510924
  81883
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036021749_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  52492476
  52531345
  38870
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB295710_1007841796
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53091553
  53124524
  32972
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB578118_1007853652
  N/A
  N/A
  Control
  No previous psychiatric history
 
  52813013
  52846597
  33585
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB582699_1007853870
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53539198
  53758415
  219218
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB585116_1007872290
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53854510
  53891844
  37335
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB602166_1007873648
  N/A
  N/A
  Control
  No previous psychiatric history
 
  52492476
  52531345
  38870
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB628278_1007846477
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53429042
  53508130
  79089
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB703785_1007873472
  N/A
  N/A
  Control
  No previous psychiatric history
 
  52864139
  52967183
  103045
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB857365_1007854179
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53426434
  53510924
  84491
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB883531_1007844959
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53426434
  53508130
  81697
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB944909_1007844028
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53426434
  53510924
  84491
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB951788_1007843996
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53426434
  53510924
  84491
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900040_900040
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53426434
  53510924
  84491
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900305_900305
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53429042
  53514004
  84963
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900358_900358
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53429042
  53507023
  77982
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900621_900621
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53426434
  53510924
  84491
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900627_900627
  N/A
  N/A
  Control
  No previous psychiatric history
 
  52496241
  52531345
  35105
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900962_900962
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53372855
  53445531
  72677
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901029_901029
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53426434
  53508130
  81697
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902516_902516
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53429042
  53514004
  84963
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902570_902570
  N/A
  N/A
  Control
  No previous psychiatric history
 
  52492476
  52531345
  38870
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902646_902646
  N/A
  N/A
  Control
  No previous psychiatric history
 
  52813013
  52846597
  33585
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_216
  NA
  NA
  Control
  NA
  NA
  52692014
  52995127
  303114
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control12705.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12705. SRS score of 38.
 
  51768658
  52046868
  278211
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control13215.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13215. SRS score of 51.
 
  51768658
  52076172
  307515
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11121.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  52349154
  52406645
  57492
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13416.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  51768658
  52076172
  307515
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13551.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  51768658
  52076172
  307515
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11233.s1
  NA
  M
  Control
  NA
  NA
  53096592
  53126493
  29902
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11455.s1
  NA
  F
  Control
  NA
  NA
  53592231
  53628430
  36200
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C28427
 
 
  Control
 
 
  58973095
  59049735
  76641
  Unknown
  Deletion
 
  poultney_13_ASD_discovery_controls-control05C43656
  N/A
  F
  Control
  NIMH Control (NIMH ID 93763)
 
  51768657
  52046870
  278214
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11006.s1
  5.5
  M
  Control (matched sibling)
  NA
  NA
  53426434
  53510924
  84491
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11107.s1
  3.7
  M
  Control (matched sibling)
  NA
  NA
  53426434
  53502054
  75621
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11148.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  53426434
  53510924
  84491
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11233.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  53097592
  53124524
  26933
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11252.s1
  11.4
  M
  Control (matched sibling)
  NA
  NA
  53426434
  53510924
  84491
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11329.s1
  6.9
  M
  Control (matched sibling)
  NA
  NA
  53792934
  53793980
  1047
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11339.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  52828661
  52841448
  12788
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11360.s1
  8.4
  F
  Control (matched sibling)
  NA
  NA
  52828661
  52841448
  12788
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11455.s1
  8.9
  F
  Control (matched sibling)
  NA
  NA
  53595743
  53628384
  32642
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11512.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  53440585
  53502054
  61470
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11575.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  52828661
  52855636
  26976
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11676.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  52764253
  52864139
  99887
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11818.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  53426434
  53509026
  82593
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11917.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  53228501
  53243685
  15185
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12052.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  53686456
  53816356
  129901
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12060.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  53426434
  53510924
  84491
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12189.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  52828661
  52848448
  19788
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12377.s1
  20.6
  F
  Control (matched sibling)
  NA
  NA
  52828661
  52848448
  19788
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12434.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  52828661
  52855636
  26976
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12438.s1
  6.4
  M
  Control (matched sibling)
  NA
  NA
  52828661
  52846597
  17937
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12521.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  53369175
  53385373
  16199
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12524.s1
  4.4
  F
  Control (matched sibling)
  NA
  NA
  53097592
  53124524
  26933
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12605.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  53228501
  53229848
  1348
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12642.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  53426434
  53492496
  66063
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12661.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  52828661
  52848448
  19788
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12669.s1
  13.2
  M
  Control (matched sibling)
  NA
  NA
  53426434
  53502054
  75621
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12829.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  52828661
  52842068
  13408
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13166.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  52703472
  52749264
  45793
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case1171_5
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case1199_3
 
 
 Unknown
 
 
 DPPA5P1,ZNF528,ZNF534,ZNF578
 
 engchuan_15_ASD_discovery_cases-case1252_4
 
 
 Unknown
 
 
 ZNF600,ZNF468,ZNF320,ZNF888,ZNF28
 
 engchuan_15_ASD_discovery_cases-case13054_643
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case13120_1373
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case1391_302
 
 
 Unknown
 
 
 ZNF468,ZNF320,ZNF28
 
 engchuan_15_ASD_discovery_cases-case14029_560
 
 
 Unknown
 
 
 RPL39P36,ZNF765,TPM3P9,ZNF761
 
 engchuan_15_ASD_discovery_cases-case14058_1000
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case14309_4260
 
 
 Unknown
 
 
 NDUFV2P1,ZNF665,ZNF677
 
 engchuan_15_ASD_discovery_cases-case14343_4570
 
 
 Unknown
 
 
 RN7SL317P,DPRX,RNU6-698P,MIR512-1,MIR512-2,MIR1323,MIR498,MIR520E,MIR515-1,MIR519E,MIR520F,MIR515-2,MIR519C,MIR1283-1,MIR520A,MIR526B,MIR519B,MIR525,MIR523,MIR518F,MIR520B,MIR518B,MIR526A1,MIR520C,MIR518C,MIR524,MIR517A,MIR519D,MIR521-2,RNU6-803P,MIR520D,MIR517B,MIR520G,MIR516B2,MIR526A2,MIR518E,MIR518A1,RNU6-980P,MIR518D,MIR516B1,MIR518A2,MIR517C,MIR520H,RNU6-982P,MIR521-1,RNU6-751P,MIR522
 
 engchuan_15_ASD_discovery_cases-case2187_1
 
 
 Unknown
 
 
 RN7SL317P,DPRX,RNU6-698P,MIR512-1,MIR512-2,MIR1323,MIR498,MIR520E,MIR515-1,MIR519E,MIR520F,MIR515-2,MIR519C,MIR1283-1,MIR520A,MIR526B,MIR519B,MIR525,MIR523,MIR518F,MIR520B,MIR518B,MIR526A1,MIR520C,MIR518C,MIR524,MIR517A,MIR519D,MIR521-2,RNU6-803P,MIR520D,MIR517B,MIR520G,MIR516B2,MIR526A2,MIR518E,MIR518A1,RNU6-980P,MIR518D,MIR516B1,MIR518A2,MIR517C,MIR520H,RNU6-982P,MIR521-1,RNU6-751P,MIR522,MIR519A1,MIR527,MIR516A1,MIR1283-2,RNU6-1041P,MIR516A2,MIR519A2,RNU6-165P,HMGN1P32,SEPT7P8,MIR371A,MIR371B,MIR372,MIR373,NLRP12
 
 engchuan_15_ASD_discovery_cases-case3049_3
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case3308_4
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case3507_3
 
 
 Unknown
 
 
 ZNF83,ZNF611,ZNF600,ZNF468,ZNF28
 
 engchuan_15_ASD_discovery_cases-case3510_3
 
 
 Unknown
 
 
 ZNF415,ZNF347,ZNF160
 
 engchuan_15_ASD_discovery_cases-case4233_1
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case4234_1
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case4241_1
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case4282_1
 
 
 Unknown
 
 
 RNU6-698P,MIR512-1,MIR512-2,MIR1323,MIR498,MIR520E,MIR515-1,MIR519E,MIR520F,MIR515-2,MIR519C,MIR1283-1,MIR520A,MIR526B,MIR519B,MIR525,MIR523,MIR518F,MIR520B,MIR518B,MIR526A1,MIR520C,MIR518C,MIR524,MIR517A,MIR519D,MIR521-2,RNU6-803P,MIR520D,MIR517B,MIR520G,MIR516B2,MIR526A2,MIR518E,MIR518A1,RNU6-980P,MIR518D,MIR516B1,MIR518A2,MIR517C,MIR520H,RNU6-982P,MIR521-1,RNU6-751P,MIR522,MIR519A1,MIR527,MIR516A1,MIR1283-2,RNU6-1041P,MIR516A2,MIR519A2,RNU6-165P,HMGN1P32,SEPT7P8,MIR371A,MIR371B,MIR372,MIR373,NLRP12,MYADM
 
 engchuan_15_ASD_discovery_cases-case4400_1
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case5029_4
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case5051_3
 
 
 Unknown
 
 
 ZNF468,ZNF320,ZNF28
 
 engchuan_15_ASD_discovery_cases-case5057_4
 
 
 Unknown
 
 
 ZNF468,ZNF28
 
 engchuan_15_ASD_discovery_cases-case5085_4
 
 
 Unknown
 
 
 ZNF83
 
 engchuan_15_ASD_discovery_cases-case5099_3
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case5335_3
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case5465_3
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case5513_3
 
 
 Unknown
 
 
 DPPA5P1,RPL39P34,ZNF534,ZNF578,ZNF137P,ZNF83,ZNF611,ZNF808,ZNF701
 
 engchuan_15_ASD_discovery_cases-case5527_3
 
 
 Unknown
 
 
 RPL39P36,ZNF525,ZNF765,TPM3P9,ZNF761
 
 engchuan_15_ASD_discovery_cases-case6041_2
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case6149_4
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 engchuan_15_ASD_discovery_cases-case8650_201
 
 
 Unknown
 
 
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 gai_11_ASD_replication_cases-AU055303
 
 
 Inherited
 
 
 ZNF528, ZNF534, ZNF578
 
 gai_11_ASD_replication_cases-AU055304
 
 
 Inherited
 
 
 ZNF528, ZNF534, ZNF578
 
 girirajan_13a_ASD_discovery_cases-11233.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 NDUFV2P1,VN1R2,VN1R4,FAM90A27P,BIRC8,FAM90A28P,VN1R6P,ZNF415,ZNF347,ZNF665,ZNF677,ZNF525,ZNF765,ZNF160,ZNF845
 
 girirajan_13a_ASD_discovery_cases-AU1400301
 aCGH (NimbleGen 135K array)
 
 Maternal
 Multiplex
 Unknown
 NDUFV2P1,VN1R2,VN1R4,FAM90A27P,BIRC8,FAM90A28P,VN1R6P,ZNF415,ZNF347,ZNF665,ZNF677,ZNF525,ZNF765,ZNF160,ZNF845
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001905
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL317P,DPRX,RNU6-698P,MIR512-1,MIR512-2,MIR1323,MIR498,MIR520E,MIR515-1,MIR519E,MIR520F,MIR515-2,MIR519C,MIR1283-1,MIR520A,MIR526B,MIR519B,MIR525,MIR523,MIR518F,MIR520B,MIR518B,MIR526A1,MIR520C,MIR518C,MIR524,MIR517A,MIR519D,MIR521-2,RNU6-803P,MIR520D,MIR517B,MIR520G,MIR516B2,MIR526A2,MIR518E,MIR518A1,RNU6-980P,MIR518D,MIR516B1,MIR518A2,MIR517C,MIR520H,RNU6-982P,MIR521-1,RNU6-751P,MIR522,MIR519A1,MIR527,MIR516A1,MIR1283-2,RNU6-1041P,MIR516A2,MIR519A2,RNU6-165P,HMGN1P32,SEPT7P8,MIR371A,MIR371B,MIR372,MIR373,ZNF331,NLRP12,PRKCG,MYADM
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002016
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ERVV-1,ERVV-2,ZNF611,ZNF600,ZNF468,ZNF320,ZNF888,ZNF321P,ZNF702P,ZNF415,ZNF347,ZNF665,ZNF28,ZNF816-ZNF321P,ZNF816,ZNF160
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004159
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL317P,DPRX,RNU6-698P,MIR512-1,MIR512-2,MIR1323,MIR498,MIR520E,MIR515-1,MIR519E,MIR520F,MIR515-2,MIR519C,MIR1283-1,MIR520A,MIR526B,MIR519B,MIR525,MIR523,MIR518F,MIR520B,MIR518B,MIR526A1,MIR520C,MIR518C,MIR524,MIR517A,MIR519D,MIR521-2,RNU6-803P,MIR520D,MIR517B,MIR520G,MIR516B2,MIR526A2,MIR518E,MIR518A1,RNU6-980P,MIR518D,MIR516B1,MIR518A2,MIR517C,MIR520H,RNU6-982P,MIR521-1,RNU6-751P,MIR522,MIR519A1,MIR527,MIR516A1,MIR1283-2,RNU6-1041P,MIR516A2,MIR519A2,RNU6-165P,HMGN1P32,SEPT7P8
 
 krumm_13_ASD_discovery_cases-case12705.p1
 
 
 Paternal
 Simplex
 Not segregated
 HAS1,FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,FPR1,ZNF649,ZNF432
 
 krumm_15_ASD_discovery_cases-case11121.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ZNF610,ZNF880,ZNF528-AS1,ZNF528
 
 krumm_15_ASD_discovery_cases-case11573.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,FPR1,ZNF649,ZNF432
 
 krumm_15_ASD_discovery_cases-case13351.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 HAS1,FPR2,FPR3,ZNF577,FPR1
 
 krumm_15_ASD_discovery_cases-case13654.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,FPR1,ZNF649,ZNF432
 
 krumm_15_ASD_discovery_cases-case13774.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 ZNF350-AS1,ZNF350
 
 levy_11_ASD_discovery_cases-11233.p1
 
 
 Paternal
 Simplex
 Not segregated
 ZNF415,ZNF347,ZNF160
 
 levy_11_ASD_discovery_cases-11455.p1
 
 
 Paternal
 Simplex
 Not segregated
 
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 
 
 Unknown
 Simplex
 Unknown
 ERVV-1,ERVV-2,ZNF702P
 
 marshall_08_ASD_discovery_cases-NA0004-000
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 TPM3P6,RN7SL317P,DPRX,RNU6-698P,MIR512-1,MIR512-2,MIR1323,MIR498,MIR520E,MIR515-1,MIR519E,MIR520F,MIR515-2,MIR519C,MIR1283-1,MIR520A,MIR526B,MIR519B,MIR525,MIR523,MIR518F,MIR520B,MIR518B,MIR526A1,MIR520C,MIR518C,MIR524,MIR517A,MIR519D,MIR521-2,RNU6-803P,MIR520D,MIR517B,MIR520G,MIR516B2,MIR526A2,MIR518E,MIR518A1,RNU6-980P,MIR518D,MIR516B1,MIR518A2,MIR517C,MIR520H,RNU6-982P,MIR521-1,RNU6-751P,MIR522,MIR519A1,MIR527,MIR516A1,MIR1283-2,RNU6-1041P,MIR516A2,MIR519A2,TPM3P9,ZNF761,ZNF331,ZNF813
 
 marshall_08_ASD_discovery_cases-NA0111-000
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 ERVV-1,ERVV-2,ZNF83,ZNF611,ZNF600,ZNF468,ZNF320,ZNF888,ZNF321P,ZNF702P,ZNF28,ZNF816-ZNF321P,ZNF816
 
 nava_13_ASD_discovery_cases-Fam607Proband7291
 
 
 Unknown
 Simplex
 Unknown
 TPM3P6,TPM3P9,ZNF761,ZNF813
 
 nava_13_ASD_discovery_cases-Fam703Proband7947
 
 
 Paternal, present in affected brother
 Multiplex
 Segregated
 TPM3P6,TPM3P9,ZNF761,ZNF813
 
 newbury_12_ASD/CAS_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown (rare freq in DGV)
 FPR1
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
 
 
 Paternal
 Multi-generational
 Unknown
 ZNF468,ZNF320,ZNF888,ZNF321P,ZNF28,ZNF816-ZNF321P
 
 pinto_10_ASD_discovery_cases-case1171_5
 Illumina550;Affy5.0
 
 maternal
 NA
 NA
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 pinto_10_ASD_discovery_cases-case1199_3
 Affy5.0
 
 maternal
 NA
 NA
 DPPA5P1,ZNF528,ZNF534,ZNF578
 
 pinto_10_ASD_discovery_cases-case1252_4
 Illumina550;Affy5.0
 
 maternal
 NA
 NA
 ZNF600,ZNF468,ZNF320,ZNF888,ZNF28
 
 pinto_10_ASD_discovery_cases-case1391_302
 Illumina550
 
 paternal
 NA
 NA
 ZNF468,ZNF320,ZNF28
 
 pinto_10_ASD_discovery_cases-case5029_4
 Agilent1M
 
 paternal
 NA
 NA
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 pinto_10_ASD_discovery_cases-case5057_4
 Agilent1M
 
 maternal
 NA
 NA
 ZNF468,ZNF28
 
 pinto_10_ASD_discovery_cases-case5099_3
 Agilent1M
 
 paternal
 NA
 NA
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 poultney_13_ASD_discovery_cases-case04HI2957A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RPL37P23,ZNF616,ZNF836
 
 poultney_13_ASD_discovery_cases-case99HI0922A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RPL37P23,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,ZNF432,ZNF836
 
 poultney_13_ASD_discovery_cases-case99HI0933A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RPL37P23,ZNF616,ZNF836
 
 poultney_13_ASD_discovery_cases-case99HI1053A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,FPR1,ZNF649,ZNF432
 
 prasad_12_ASD_discovery_cases-case73891
 
 
 Unknown
 Unknown
 Unknown
 ZNF611,ERVV-1,ZNF600,ZNF320,ZNF83,ERVV-2,ZNF816,ZNF321P,ZNF468,ZNF816-ZNF321P,ZNF702P,ZNF28
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1018-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 TPM3P6,TPM3P9,ZNF761,ZNF813
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1047-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1230-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP95-025
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-008
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-121
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sanders_11_ASD_discovery_cases-11006.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sanders_11_ASD_discovery_cases-11098.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 ZNF415,ZNF160
 
 sanders_11_ASD_discovery_cases-11114.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sanders_11_ASD_discovery_cases-11129.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-11172.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-11233.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF415,ZNF347,ZNF160
 
 sanders_11_ASD_discovery_cases-11252.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sanders_11_ASD_discovery_cases-11277.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-11339.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-11455.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11512.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RPL39P36,ZNF765
 
 sanders_11_ASD_discovery_cases-11512.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TPM3P6,ZNF761,ZNF813
 
 sanders_11_ASD_discovery_cases-11575.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-11584.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 RPL39P36,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sanders_11_ASD_discovery_cases-11765.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sanders_11_ASD_discovery_cases-11825.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-11917.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF677
 
 sanders_11_ASD_discovery_cases-11928.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sanders_11_ASD_discovery_cases-11931.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-11938.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-11962.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF347
 
 sanders_11_ASD_discovery_cases-11990.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-12008.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-12052.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MIR519C,MIR1283-1,MIR520A,MIR526B,MIR519B,MIR525,MIR523,MIR518F,MIR520B,MIR518B,MIR526A1,MIR520C,MIR518C,MIR524,MIR517A,MIR519D,MIR521-2,RNU6-803P,MIR520D,MIR517B,MIR520G,MIR516B2,MIR526A2,MIR518E,MIR518A1,RNU6-980P,MIR518D,MIR516B1,MIR518A2,MIR517C,MIR520H,RNU6-982P,MIR521-1,RNU6-751P,MIR522,MIR519A1,MIR527,MIR516A1,MIR1283-2,RNU6-1041P,MIR516A2,MIR519A2,RNU6-165P,HMGN1P32,SEPT7P8,MIR371A,MIR371B,MIR372,MIR373,NLRP12
 
 sanders_11_ASD_discovery_cases-12060.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sanders_11_ASD_discovery_cases-12279.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-12355.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-12373.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sanders_11_ASD_discovery_cases-12434.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-12441.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF677
 
 sanders_11_ASD_discovery_cases-12460.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-12524.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF415,ZNF347,ZNF160
 
 sanders_11_ASD_discovery_cases-12619.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF468,ZNF28
 
 sanders_11_ASD_discovery_cases-12628.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sanders_11_ASD_discovery_cases-12669.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
 sanders_11_ASD_discovery_cases-13056.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ZNF611
 
 sanders_11_ASD_discovery_cases-13323.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ZNF578
 
 yin_16_ASD_discovery_cases-case558
 
 
 Unknown
 Unknown
 Unknown
 SIGLEC14,SIGLEC5
 
 yin_16_ASD_discovery_cases-case559
 
 
 Unknown
 Unknown
 Unknown
 ZNF28
 
 yin_16_ASD_discovery_cases-case560
 
 
 Unknown
 Unknown
 Unknown
 ZNF28
 
 yin_16_ASD_discovery_cases-case561
 
 
 Unknown
 Unknown
 Unknown
 ZNF468,ZNF320,ZNF28
 
 yin_16_ASD_discovery_cases-case562
 
 
 Unknown
 Unknown
 Unknown
 ERVV-1,ZNF702P
 
 yin_16_ASD_discovery_cases-case563
 
 
 Unknown
 Unknown
 Unknown
 ERVV-1,ERVV-2,ZNF702P
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036015782_
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-control110036016137_
 
 
  Unknown
 
 
  ZNF611,ZNF600
 
engchuan_15_ASD_discovery_controls-control110036016178_
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-control110036020485_
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-control110036020733_
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-control110036020865_
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-control110036021749_
 
 
  Unknown
 
 
  ZNF578,ZNF808
 
engchuan_15_ASD_discovery_controls-controlB295710_1007841796
 
 
  Unknown
 
 
  ZNF415,ZNF347,ZNF160
 
engchuan_15_ASD_discovery_controls-controlB578118_1007853652
 
 
  Unknown
 
 
  ZNF468,ZNF28
 
engchuan_15_ASD_discovery_controls-controlB582699_1007853870
 
 
  Unknown
 
 
  RN7SL317P,DPRX,RNU6-698P,MIR512-1,MIR512-2,MIR1323,MIR498,MIR520E,MIR515-1,MIR519E,MIR520F,MIR515-2,MIR519C,MIR1283-1,MIR520A,MIR526B,MIR519B,MIR525,MIR523,MIR518F,MIR520B,MIR518B,MIR526A1,MIR520C,MIR518C,MIR524,MIR517A,MIR519D,MIR521-2,RNU6-803P,MIR520D,MIR517B,MIR520G,MIR516B2,MIR526A2,MIR518E,MIR518A1,RNU6-980P,MIR518D,MIR516B1,MIR518A2,MIR517C,MIR520H,RNU6-982P,MIR521-1,RNU6-751P,MIR522,MIR519A1,MIR527,MIR516A1,MIR1283-2,ZNF331
 
engchuan_15_ASD_discovery_controls-controlB585116_1007872290
 
 
  Unknown
 
 
  PRKCG,MYADM
 
engchuan_15_ASD_discovery_controls-controlB602166_1007873648
 
 
  Unknown
 
 
  ZNF578,ZNF808
 
engchuan_15_ASD_discovery_controls-controlB628278_1007846477
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-controlB703785_1007873472
 
 
  Unknown
 
 
  ZNF468,ZNF320,ZNF888,ZNF321P,ZNF816-ZNF321P,ZNF816
 
engchuan_15_ASD_discovery_controls-controlB857365_1007854179
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-controlB883531_1007844959
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-controlB944909_1007844028
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-controlB951788_1007843996
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-controlHABC_900040_900040
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-controlHABC_900305_900305
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-controlHABC_900358_900358
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-controlHABC_900621_900621
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-controlHABC_900627_900627
 
 
  Unknown
 
 
  ZNF578,ZNF808
 
engchuan_15_ASD_discovery_controls-controlHABC_900962_900962
 
 
  Unknown
 
 
  RPL39P36,ZNF525,ZNF765,TPM3P9,ZNF761
 
engchuan_15_ASD_discovery_controls-controlHABC_901029_901029
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-controlHABC_902516_902516
 
 
  Unknown
 
 
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
engchuan_15_ASD_discovery_controls-controlHABC_902570_902570
 
 
  Unknown
 
 
  ZNF578,ZNF808
 
engchuan_15_ASD_discovery_controls-controlHABC_902646_902646
 
 
  Unknown
 
 
  ZNF468,ZNF28
 
girirajan_11_ASD_discovery_controls-NIMH_216
 
 
  Unknown
 
 
  ZNF611,ZNF600,ZNF468,ZNF320,ZNF888,ZNF321P,ZNF702P,ZNF28,ZNF816-ZNF321P,ZNF816
 
krumm_13_ASD_discovery_controls-control12705.s1
 
 
  Paternal
  Simplex
 
  FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,FPR1,ZNF649,ZNF432
 
krumm_13_ASD_discovery_controls-control13215.s1
 
 
  Maternal
  Simplex
 
  FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,FPR1,ZNF649,ZNF432
 
krumm_15_ASD_discovery_controls-control11121.s1
  Illumina 1M
 
  Maternal
 
 
  ZNF610,ZNF880,ZNF528-AS1,ZNF528
 
krumm_15_ASD_discovery_controls-control13416.s1
  1M-Duov3
 
  Paternal
 
 
  FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,FPR1,ZNF649,ZNF432
 
krumm_15_ASD_discovery_controls-control13551.s1
  1M-Duov3
 
  Maternal
 
 
  FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,FPR1,ZNF649,ZNF432
 
levy_11_ASD_discovery_controls-11233.s1
 
 
  Paternal
  Simplex
  NA
  ZNF415,ZNF347,ZNF160
 
levy_11_ASD_discovery_controls-11455.s1
 
 
  Paternal
  Simplex
  NA
 
 
nord_11_ASD_discovery_controls-04C28427
 
 
 
 
 
  NLRP12
 
poultney_13_ASD_discovery_controls-control05C43656
 
 
  Unknown
 
 
  FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,FPR1,ZNF649,ZNF432
 
sanders_11_ASD_discovery_controls-11006.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
sanders_11_ASD_discovery_controls-11107.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
sanders_11_ASD_discovery_controls-11148.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
sanders_11_ASD_discovery_controls-11233.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF415,ZNF347,ZNF160
 
sanders_11_ASD_discovery_controls-11252.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
sanders_11_ASD_discovery_controls-11329.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NLRP12
 
sanders_11_ASD_discovery_controls-11339.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF468,ZNF28
 
sanders_11_ASD_discovery_controls-11360.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF468,ZNF28
 
sanders_11_ASD_discovery_controls-11455.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11512.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TPM3P6,TPM3P9,ZNF761,ZNF813
 
sanders_11_ASD_discovery_controls-11575.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF468,ZNF28
 
sanders_11_ASD_discovery_controls-11676.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF600,ZNF468,ZNF320,ZNF28
 
sanders_11_ASD_discovery_controls-11818.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
sanders_11_ASD_discovery_controls-11917.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF677
 
sanders_11_ASD_discovery_controls-12052.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR519C,MIR1283-1,MIR520A,MIR526B,MIR519B,MIR525,MIR523,MIR518F,MIR520B,MIR518B,MIR526A1,MIR520C,MIR518C,MIR524,MIR517A,MIR519D,MIR521-2,RNU6-803P,MIR520D,MIR517B,MIR520G,MIR516B2,MIR526A2,MIR518E,MIR518A1,RNU6-980P,MIR518D,MIR516B1,MIR518A2,MIR517C,MIR520H,RNU6-982P,MIR521-1,RNU6-751P,MIR522,MIR519A1,MIR527,MIR516A1,MIR1283-2,RNU6-1041P,MIR516A2,MIR519A2,RNU6-165P,HMGN1P32,SEPT7P8,MIR371A,MIR371B,MIR372,MIR373,NLRP12
 
sanders_11_ASD_discovery_controls-12060.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
sanders_11_ASD_discovery_controls-12189.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF468,ZNF28
 
sanders_11_ASD_discovery_controls-12377.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF468,ZNF28
 
sanders_11_ASD_discovery_controls-12434.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF468,ZNF28
 
sanders_11_ASD_discovery_controls-12438.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF468,ZNF28
 
sanders_11_ASD_discovery_controls-12521.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF525
 
sanders_11_ASD_discovery_controls-12524.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF415,ZNF347,ZNF160
 
sanders_11_ASD_discovery_controls-12605.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12642.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
sanders_11_ASD_discovery_controls-12661.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF468,ZNF28
 
sanders_11_ASD_discovery_controls-12669.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TPM3P6,ZNF765,TPM3P9,ZNF761,ZNF813
 
sanders_11_ASD_discovery_controls-12829.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF468,ZNF28
 
sanders_11_ASD_discovery_controls-13166.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF611
 

No Animal Model Data Available
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