geno logo
     HELP     Sign In

Quick Links

TOOLS

4q28.3CNV Type: Deletion-Duplication


Largest CNV size: 321375 bp

Statistics Box:
Number of Reports: 19


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
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.
Deletion
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.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication

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
 407912
 19
 9
 28
 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
 
 
 95599
 2
 0
 2
 gannon_11_ASD/DD_discovery_cases
 Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
 187
 Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
 Mean age, ~44 mos.
 ~82% Male
 NA
 0
 1
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 403973
 0
 2
 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
 664329
 1
 0
 1
 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
 1051053
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 40020
 1
 0
 1
 lesca_12_EP_discovery_cases
 Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
 61
 Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
 Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
 61% Male
 781000
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 126995
 1
 0
 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)
 
 
 321375
 2
 0
 2
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 85535
 1
 0
 1
 o'roak_12_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
 122
 ASD/autism
 NA
 NA
 265839
 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
 
 
 264596
 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
 79301
 1
 2
 3
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 304116
 3
 0
 3
 rosenfeld_10_non-ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 21219
 Controls (no diagnosis or indication of ASD)
 
 
 
 9
 0
 9
 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
 253972
 3
 0
 3
 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
 280313
 36
 3
 39
 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
 103000
 1
 0
 1
 soueid_16_DD/ID_discovery_cases
 Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 35
 Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 N/A
 N/A
 0
 0
 0
 0
 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
 184159
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 509397
 20
 18
 38
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 0
 0
 0
 0
 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
 5842
 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
 1051053
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 40020
 1
 0
 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
 126995
 1
 0
 1
 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.
 
 0
 0
 0
 0
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 79301
 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.
 
 286936
 26
 3
 29
 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
 184159
 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
 gannon_11_ASD/DD_discovery_cases
  Gulf Coast of Alabama, Mississippi, & Florida
 aCGH
  Genome-wide oligo array with 44K platform
 
 
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 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)
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 PCR
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 o'roak_12_ASD_discovery_cases
  NA
 WES
  NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
 HMM
 mrsFAST aligner
 aCGH, Sanger sequencing
 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)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 rosenfeld_10_non-ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 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
 
 
  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
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  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
  engchuan_15_ASD_discovery_cases-case13032_414
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 133941306
 134063406
  122101
 GRCh38
 Deletion
 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)
 
 133997126
 134265805
  268680
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14163_2670
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 131350817
 131460299
  109483
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14184_3020
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 131025220
 131433132
  407913
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14188_3120
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 134001210
 134265805
  264596
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14248_3720
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 134544726
 134664829
  120104
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14330_4440
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 134001210
 134265805
  264596
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14392_5010
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 131025220
 131433132
  407913
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16029_1571001001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 136887774
 136931330
  43557
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16043_1571070001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 134507300
 134638520
  131221
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20071_1335001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 131025220
 131433132
  407913
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20136_1236021
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 133997126
 134265805
  268680
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20171_1624001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 133345823
 133381929
  36107
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3160_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 134001210
 134265805
  264596
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3451_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 131574170
 131753493
  179324
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4177_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 137325992
 137412504
  86513
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4205_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 131025220
 131433132
  407913
 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)
 
 134136228
 134169125
  32898
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4235_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 134136228
 134169125
  32898
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4387_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 135982188
 136037209
  55022
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4395_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 137878031
 137962031
  84001
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4428_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 136971704
 137081527
  109824
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5072_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 134001210
 134265805
  264596
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5081_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 135782606
 135866384
  83779
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5378_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 134001210
 134265805
  264596
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6340_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 134001210
 134265805
  264596
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8472_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 131471572
 131505375
  33804
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8674_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 131025220
 131433132
  407913
 GRCh38
 Duplication
 No
  gai_11_ASD_replication_cases-AU0955301
 
 
 Autism
 
 
 132505306
 132600904
  95599
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU0955302
 
 
 Autism
 
 
 132505306
 132589958
  84653
 Unknown
 Deletion
 No
  gannon_11_ASD/DD_discovery_cases-patientE
 
 
 ASD and/or DD
 Dysmorphic features: unknown
 IQ unknown
 NA
 NA
  NA
 Unknown
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-33906106436
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 131042440
 131446413
  403974
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-34206106447
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 131042440
 131412791
  370352
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005055
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 136132427
 136796756
  664330
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case12770.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12770. SRS score of 80.
 Full-scale IQ (FSIQ) score of 122.
 133150140
 134201193
  1051054
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11104.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 133150140
 133190160
  40021
 GRCh38
 Deletion
 Yes
  lesca_12_EP_discovery_cases-caseDY29
 NA
 F
 Epilepsy
 Phenotype: LKS-wiESES. Seizure Characteristics: FS, PS. Autistic features: No. ADHD features: Yes. Other features: None.
 Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 53, performance IQ 45 (at 5.25 years of age).
 130299195
 131079794
  780600
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11104.p1
 NA
 M
 ASD
 NA
 NA
 133094645
 133221639
  126995
 GRCh38
 Deletion
 No
  morrow_08_ASD_discovery_cases-case7001
 NA
 
 ASD
 NA
 NA
 135090752
 135412127
  321375
 Unknown
 Homozygous deletion
 Yes
  nord_11_ASD_discovery_cases-214-1
 
 
 ASD
 
 
 137760091
 137845625
  85535
 Unknown
 Deletion
 No
  o'roak_12_ASD_discovery_cases-case11715.p1
 NA
 M
 ASD/Autism
 Case also identified with de novo ASAH2 frameshift mutation and de novo SLC34A3 synonymous mutation. No additional clinical info available.
 High IQ. Non verbal IQ, 95
 133999966
 134265805
  265840
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5072_3
 NA
 M
 ASD
 No epilepsy, no dysmorphic features
 Average IQ
 134001210
 134265805
  264596
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5081_4
 NA
 M
 ASD
 NA
 NA
 135782606
 135866384
  83779
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case47383
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 136929535
 136998946
  69412
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case68672
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 139095338
 139174638
  79301
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case85983
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 136226726
 136245645
  18920
 Unknown
 Duplication
 No
  rosenfeld_10_ASD_discovery_cases-case20468
 NA
 NA
 ASD
 NA
 NA
 135159947
 135464063
  304116
 Unknown
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case22054
 NA
 NA
 ASD
 NA
 NA
 135159947
 135464063
  304116
 Unknown
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case25196
 NA
 NA
 ASD
 NA
 NA
 135162685
 135399620
  236935
 Unknown
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
 N/A
 N/A
 ACC-PMG
 Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
 Developmental delay: yes. Intellectual disability: N/A.
 137169614
 137243796
  74183
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-096
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 134001210
 134255181
  253972
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-018
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 134001210
 134245328
  244119
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11001.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
 130773312
 130880357
  107046
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11031.p1
 13.8
 M
 Aspergers
 NA
 Full-scale IQ, 118; non-verbal IQ, 110; verbal IQ, 128
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11089.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 39
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11098.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
 132935081
 133027218
  92138
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11109.p1
 4.5
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ 71
 137159607
 137176710
  17104
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11203.p1
 7.1
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 95
 137258077
 137277302
  19226
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11300.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
 137256844
 137269240
  12397
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11330.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11455.p1
 7.6
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11472.p1
 13.7
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
 136782879
 136789500
  6622
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11499.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11509.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 83; verbal IQ, 80
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 135586865
 135590244
  3380
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11569.p1
 9.1
 F
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11715.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 95; verbal IQ, 101
 134001210
 134255550
  254341
 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
 134896905
 134912040
  15136
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11947.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 28
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11964.p1
 12.4
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11966.p1
 13.2
 M
 Autism
 NA
 Full-scale IQ, 32; non-verbal IQ, 35; verbal IQ, 26
 130822503
 130829799
  7297
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12020.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
 134001210
 134265805
  264596
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12048.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
 130822503
 130858002
  35500
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12335.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12465.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 105
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12480.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12515.p1
 6.3
 F
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 137780736
 137789942
  9207
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12532.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 135
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12558.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12600.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 69
 133582943
 133597238
  14296
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12616.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 113; verbal IQ, 104
 137591344
 137602128
  10785
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12618.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 102
 134001210
 134265805
  264596
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12698.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 94; verbal IQ, 72
 137931818
 137987538
  55721
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12784.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 106; verbal IQ, 87
 133211623
 133213176
  1554
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12784.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 106; verbal IQ, 87
 133218495
 133257523
  39029
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12957.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12975.p1
 10.4
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
 135805870
 135808575
  2706
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13001.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
 130657513
 130829799
  172287
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13010.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 122; verbal IQ, 99
 134001210
 134281523
  280314
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13088.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 67
 135086775
 135183991
  97217
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13199.p1
 15.2
 F
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 97
 137259590
 137269240
  9651
 GRCh38
 Deletion
 No
  soueid_16_ASD_discovery_cases-caseBAK42
 N/A
 M
 Autism
 Case fulfilled DSM-V criteria for autism; no other information available
 
 137171575
 137274947
  103373
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case209
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 131667754
 131851912
  184159
 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-control110030096051_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131025220
  131433132
  407913
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036009330_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131025220
  131433132
  407913
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036023067_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131025220
  131430500
  405281
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB106347_1007873601
  N/A
  N/A
  Control
  No previous psychiatric history
 
  130607042
  130708805
  101764
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB178854_1007854183
  N/A
  N/A
  Control
  No previous psychiatric history
 
  134121704
  134188498
  66795
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB295219_1007872186
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131025220
  131433132
  407913
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB586615_1007875854
  N/A
  N/A
  Control
  No previous psychiatric history
 
  134001210
  134265805
  264596
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB627204_1007846383
  N/A
  N/A
  Control
  No previous psychiatric history
 
  134063406
  134376320
  312915
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB714366_1007851282
  N/A
  N/A
  Control
  No previous psychiatric history
 
  134001210
  134362974
  361765
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB807498_1007874668
  N/A
  N/A
  Control
  No previous psychiatric history
 
  133941306
  134063406
  122101
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB877576_1007874042
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131959048
  132468445
  509398
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB885849_1007872260
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131025220
  131433132
  407913
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB957019_1007844002
  N/A
  N/A
  Control
  No previous psychiatric history
 
  133941306
  134063406
  122101
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB973477_1007842438
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131008014
  131433132
  425119
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900119_900119
  N/A
  N/A
  Control
  No previous psychiatric history
 
  134125081
  134188231
  63151
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900159_900159
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131025220
  131433132
  407913
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900259_900259
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131025220
  131433132
  407913
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900267_900267
  N/A
  N/A
  Control
  No previous psychiatric history
 
  134125081
  134176015
  50935
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900284_900284
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131025220
  131433132
  407913
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900285_900285
  N/A
  N/A
  Control
  No previous psychiatric history
 
  136516544
  136550377
  33834
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900316_900316
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131025220
  131433132
  407913
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900332_900332
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131025220
  131433132
  407913
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900389_900389
  N/A
  N/A
  Control
  No previous psychiatric history
 
  134001210
  134265805
  264596
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900455_900455
  N/A
  N/A
  Control
  No previous psychiatric history
 
  134001210
  134265805
  264596
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900458_900458
  N/A
  N/A
  Control
  No previous psychiatric history
 
  135909799
  136257747
  347949
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900469_900469
  N/A
  N/A
  Control
  No previous psychiatric history
 
  134001210
  134265805
  264596
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900478_900478
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131025220
  131433132
  407913
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900575_900575
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131025220
  131433132
  407913
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901017_901017
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131025220
  131433132
  407913
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901121_901121
  N/A
  N/A
  Control
  No previous psychiatric history
 
  134001210
  134265805
  264596
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901229_901229
  N/A
  N/A
  Control
  No previous psychiatric history
 
  137176295
  137269240
  92946
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902430_902430
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131020178
  131433132
  412955
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902446_902446
  N/A
  N/A
  Control
  No previous psychiatric history
 
  132705832
  133086679
  380848
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902483_902483
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131020178
  131433132
  412955
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902617_902617
  N/A
  N/A
  Control
  No previous psychiatric history
 
  132833644
  133096754
  263111
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902677_902677
  N/A
  N/A
  Control
  No previous psychiatric history
 
  130605780
  130708805
  103026
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902727_902727
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131025220
  131433132
  407913
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902751_902751
  N/A
  N/A
  Control
  No previous psychiatric history
 
  136978368
  137081527
  103160
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1501
  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
 
  132177261
  132183102
  5842
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12770.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12770. SRS score of 47.
 
  133150140
  134201193
  1051054
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11104.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  133150140
  133190160
  40021
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11104.s1
  NA
  M
  Control
  NA
  NA
  133094645
  133221639
  126995
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11031.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  137259590
  137269240
  9651
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11098.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  132912583
  133034807
  122225
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11330.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  137259590
  137269240
  9651
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11543.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  137259590
  137269240
  9651
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11569.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  137259590
  137269240
  9651
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11571.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  137259590
  137269240
  9651
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11584.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  137259590
  137269240
  9651
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11711.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  132334161
  132375426
  41266
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11715.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  132039903
  132171935
  132033
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11715.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  134001210
  134288146
  286937
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11794.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  134896905
  134912040
  15136
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11810.s1
  4.4
  F
  Control (matched sibling)
  NA
  NA
  134906735
  134919456
  12722
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11835.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  134001210
  134265805
  264596
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11905.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  137259590
  137269240
  9651
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11947.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  137259590
  137269240
  9651
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11964.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  137259590
  137269240
  9651
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  136224627
  136235359
  10733
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12189.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  134896905
  134912040
  15136
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12210.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  137259590
  137269240
  9651
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12370.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  137259590
  137269240
  9651
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12430.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  137259590
  137269240
  9651
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12616.s1
  7.6
  M
  Control (matched sibling)
  NA
  NA
  137591137
  137602128
  10992
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12618.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  134008882
  134265805
  256924
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12695.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  133222385
  133243464
  21080
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12759.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  133218495
  133243464
  24970
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12975.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  135805870
  135808575
  2706
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13001.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  130657513
  130829799
  172287
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13088.s1
  13.8
  F
  Control (matched sibling)
  NA
  NA
  135086775
  135174350
  87576
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13089.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  137259590
  137269240
  9651
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case13032_414
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14058_1000
 
 
 Unknown
 
 
 PABPC4L
 
 engchuan_15_ASD_discovery_cases-case14163_2670
 
 
 Unknown
 
 
 LINC02377
 
 engchuan_15_ASD_discovery_cases-case14184_3020
 
 
 Unknown
 
 
 RNU6-224P,LINC02377
 
 engchuan_15_ASD_discovery_cases-case14188_3120
 
 
 Unknown
 
 
 PABPC4L
 
 engchuan_15_ASD_discovery_cases-case14248_3720
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14330_4440
 
 
 Unknown
 
 
 PABPC4L
 
 engchuan_15_ASD_discovery_cases-case14392_5010
 
 
 Unknown
 
 
 RNU6-224P,LINC02377
 
 engchuan_15_ASD_discovery_cases-case16029_1571001001
 
 
 Unknown
 
 
 LINC02511
 
 engchuan_15_ASD_discovery_cases-case16043_1571070001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20071_1335001
 
 
 Unknown
 
 
 RNU6-224P,LINC02377
 
 engchuan_15_ASD_discovery_cases-case20136_1236021
 
 
 Unknown
 
 
 PABPC4L
 
 engchuan_15_ASD_discovery_cases-case20171_1624001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3160_3
 
 
 Unknown
 
 
 PABPC4L
 
 engchuan_15_ASD_discovery_cases-case3451_3
 
 
 Unknown
 
 
 RN7SL205P
 
 engchuan_15_ASD_discovery_cases-case4177_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4205_1
 
 
 Unknown
 
 
 RNU6-224P,LINC02377
 
 engchuan_15_ASD_discovery_cases-case4233_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4235_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4387_1
 
 
 Unknown
 
 
 RNU1-89P
 
 engchuan_15_ASD_discovery_cases-case4395_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4428_1
 
 
 Unknown
 
 
 LINC02511
 
 engchuan_15_ASD_discovery_cases-case5072_3
 
 
 Unknown
 
 
 PABPC4L
 
 engchuan_15_ASD_discovery_cases-case5081_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5378_3
 
 
 Unknown
 
 
 PABPC4L
 
 engchuan_15_ASD_discovery_cases-case6340_3
 
 
 Unknown
 
 
 PABPC4L
 
 engchuan_15_ASD_discovery_cases-case8472_201
 
 
 Unknown
 
 
 LINC02377
 
 engchuan_15_ASD_discovery_cases-case8674_201
 
 
 Unknown
 
 
 RNU6-224P,LINC02377
 
 gai_11_ASD_replication_cases-AU0955301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU0955302
 
 
 Inherited
 
 
 0 genes
 
 gannon_11_ASD/DD_discovery_cases-patientE
 
 
 Unknown
 Unknown
 
 NA
 
 girirajan_13b_ASD_discovery_cases-33906106436
 
 
 Unknown
 Unknown
 Unknown
 RNU6-224P,LINC02377
 
 girirajan_13b_ASD_discovery_cases-34206106447
 
 
 Unknown
 Unknown
 Unknown
 RNU6-224P,LINC02377
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005055
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TERF1P3,LINC02511
 
 krumm_13_ASD_discovery_cases-case12770.p1
 
 
 Paternal
 Simplex
 Not segregated
 PABPC4L,PCDH10
 
 krumm_15_ASD_discovery_cases-case11104.p1
 1Mv1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 PCDH10
 
 lesca_12_EP_discovery_cases-caseDY29
 
 
 Unknown
 Unknown
 Unknown
 PGBD4P4,GAPDHP56,LINC02479
 
 levy_11_ASD_discovery_cases-11104.p1
 
 
 Maternal
 Simplex
 Not segregated
 R3HDM2P1,PCDH10
 
 morrow_08_ASD_discovery_cases-case7001
 PCR
 
 Both parents
 NA
 NA
 Noncoding adjacent to PCDH10
 
 nord_11_ASD_discovery_cases-214-1
 
 
 Maternal
 
 
 0 genes
 
 o'roak_12_ASD_discovery_cases-case11715.p1
 aCGH, Sanger sequencing
 
 Maternal
 Simplex (quad)
 Unknown
 PABPC4L
 
 pinto_10_ASD_discovery_cases-case5072_3
 Agilent1M
 
 maternal
 NA
 NA
 PABPC4L
 
 pinto_10_ASD_discovery_cases-case5081_4
 Agilent1M
 
 paternal
 NA
 NA
 
 
 prasad_12_ASD_discovery_cases-case47383
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case68672
 
 
 Unknown
 Unknown
 Unknown
 LOC641365
 
 prasad_12_ASD_discovery_cases-case85983
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 rosenfeld_10_ASD_discovery_cases-case20468
 FISH
 
 Maternal
 Unknown
 Unknown
 PABPC4L
 
 rosenfeld_10_ASD_discovery_cases-case22054
 FISH
 
 Maternal
 Unknown
 Unknown
 PABPC4L
 
 rosenfeld_10_ASD_discovery_cases-case25196
 FISH
 
 Maternal
 Unknown
 Unknown
 PABPC4L
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 LINC02510,LINC02511
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-096
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 PABPC4L
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-018
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 PABPC4L
 
 sanders_11_ASD_discovery_cases-11001.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11031.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11089.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11098.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11109.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 LINC02511
 
 sanders_11_ASD_discovery_cases-11203.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11300.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11330.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11455.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11472.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11499.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11509.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11569.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11715.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PABPC4L
 
 sanders_11_ASD_discovery_cases-11794.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11947.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11964.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11966.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12020.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PABPC4L
 
 sanders_11_ASD_discovery_cases-12048.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12335.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12465.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12480.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12515.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12532.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12558.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12600.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12616.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02172
 
 sanders_11_ASD_discovery_cases-12618.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PABPC4L
 
 sanders_11_ASD_discovery_cases-12698.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12784.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12784.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12957.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12975.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13001.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13010.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PABPC4L
 
 sanders_11_ASD_discovery_cases-13088.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02485
 
 sanders_11_ASD_discovery_cases-13199.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 soueid_16_ASD_discovery_cases-caseBAK42
 
 
 Maternal
 Simplex
 
 LINC02510,LINC02511
 
 yin_16_ASD_discovery_cases-case209
 
 
 Unknown
 Unknown
 Unknown
 RN7SL205P,SNHG27
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110030096051_
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-control110036009330_
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-control110036023067_
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlB106347_1007873601
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB178854_1007854183
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB295219_1007872186
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlB586615_1007875854
 
 
  Unknown
 
 
  PABPC4L
 
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
 
 
  Unknown
 
 
  PES1P1,PABPC4L
 
engchuan_15_ASD_discovery_controls-controlB714366_1007851282
 
 
  Unknown
 
 
  PES1P1,PABPC4L
 
engchuan_15_ASD_discovery_controls-controlB807498_1007874668
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB877576_1007874042
 
 
  Unknown
 
 
  ELL2P2
 
engchuan_15_ASD_discovery_controls-controlB885849_1007872260
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlB957019_1007844002
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB973477_1007842438
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlHABC_900119_900119
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900159_900159
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlHABC_900259_900259
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlHABC_900267_900267
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900284_900284
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlHABC_900285_900285
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900316_900316
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlHABC_900332_900332
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlHABC_900389_900389
 
 
  Unknown
 
 
  PABPC4L
 
engchuan_15_ASD_discovery_controls-controlHABC_900455_900455
 
 
  Unknown
 
 
  PABPC4L
 
engchuan_15_ASD_discovery_controls-controlHABC_900458_900458
 
 
  Unknown
 
 
  RNU1-89P,LINC00613
 
engchuan_15_ASD_discovery_controls-controlHABC_900469_900469
 
 
  Unknown
 
 
  PABPC4L
 
engchuan_15_ASD_discovery_controls-controlHABC_900478_900478
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlHABC_900575_900575
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlHABC_901017_901017
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlHABC_901121_901121
 
 
  Unknown
 
 
  PABPC4L
 
engchuan_15_ASD_discovery_controls-controlHABC_901229_901229
 
 
  Unknown
 
 
  LINC02510,LINC02511
 
engchuan_15_ASD_discovery_controls-controlHABC_902430_902430
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlHABC_902446_902446
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902483_902483
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlHABC_902617_902617
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902677_902677
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902727_902727
 
 
  Unknown
 
 
  RNU6-224P,LINC02377
 
engchuan_15_ASD_discovery_controls-controlHABC_902751_902751
 
 
  Unknown
 
 
  LINC02511
 
kanduri_15_ASD_discovery_controls-control_split1501
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, ,PCDH10(dist=1887368)
 
krumm_13_ASD_discovery_controls-control12770.s1
 
 
  Paternal
  Simplex
 
  PABPC4L,PCDH10
 
krumm_15_ASD_discovery_controls-control11104.s1
  1Mv1
 
  Maternal
 
 
  PCDH10
 
levy_11_ASD_discovery_controls-11104.s1
 
 
  Maternal
  Simplex
  NA
  R3HDM2P1,PCDH10
 
sanders_11_ASD_discovery_controls-11031.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11098.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11330.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11543.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11569.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11571.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11584.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11711.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ELL2P2
 
sanders_11_ASD_discovery_controls-11715.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11715.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PABPC4L
 
sanders_11_ASD_discovery_controls-11794.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11810.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11835.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PABPC4L
 
sanders_11_ASD_discovery_controls-11905.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11947.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11964.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12189.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12210.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12370.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12430.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12616.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02172
 
sanders_11_ASD_discovery_controls-12618.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PABPC4L
 
sanders_11_ASD_discovery_controls-12695.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12759.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12975.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13001.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13088.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02485
 
sanders_11_ASD_discovery_controls-13089.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.