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1q31.1CNV Type: Deletion-Duplication


Largest CNV size: 704000 bp

Statistics Box:
Number of Reports: 19


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
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Structural variation of chromosomes in autism spectrum disorder.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Deletion
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Deletion
NA
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 annunziata_21_ASD_discovery_cases
  NA NA
 Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
 209
 Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
 Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
 80.86% Male
 487218
 1
 0
 1
 brand_15_ASD_discovery_cases
 ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
 259
 Diagnosis of ASD
 N/A
 N/A
 140375
 0
 1
 1
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 183
 1
 0
 1
 chen_17_ASD_discovery_cases
 Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
 335
 All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
 Mean age, 9.4 4.0 years
 89.25% Male
 1315000
 1
 0
 1
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 75975
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 328707
 9
 2
 11
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 322534
 2
 1
 3
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 726245
 1
 1
 2
 kalsner_17_ASD_discovery_cases
 Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
 100
 All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
 Range, 21 mos.-17 yrs.
 76.0% Male
 148000
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 1370452
 1
 1
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 123793
 1
 0
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 392092
 1
 1
 2
 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)
 
 
 481000
 0
 1
 1
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 300964
 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
 
 
 328708
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 321375
 4
 0
 4
 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
 318470
 28
 5
 33
 schmitz-abe_20_ASD_discovery_cases
 ASD probands rom 187 families from the Homozygosity Mapping Collaborative of Autism (HMCA); 22% of families had more than one affected child, and 66% of families were consanguineous.
 255
 Diagnosis of autism or ASD made by a neurologist, child psychiatrist, or psychologist; DSM-IV-R criteria confirmed in all individuals with an Autism diagnosis
 N/A
 N/A
 6901
 2
 0
 2
 szatmari_07_ASD_discovery_cases
 ASD patients from 173 families with at least two affected individuals from AGP
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 704000
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 708013
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chen_17_ASD_discovery_controls1
 Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
 Mean age, 68.1 10.1 years
 48.03% Male
 0
 0
 0
 0
 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
 245620
 22
 4
 26
 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
 2017
 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
 55669
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 55669
 1
 0
 1
 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.
 
 68180
 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)
 5485
 1
 0
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 321375
 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.
 
 231414
 23
 3
 26
 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
 708013
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 annunziata_21_ASD_discovery_cases
  Italy
 aCGH
  BlueGnome ISCA180K (Agilent)
 
 BlueGnome Bluefuse
 qPCR, FISH
 brand_15_ASD_discovery_cases
  N/A
 Long-insert WGS
  Long-insert whole genome sequencing
 LUMPY, cn.MOPS, SV classifier
 
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-qPCR
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 kalsner_17_ASD_discovery_cases
  52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
 CMA
  Platform not reported
 
 
 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_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 qPCR
 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
 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
 
 
 schmitz-abe_20_ASD_discovery_cases
  Middle Eastern
 Array SNP
  Affymetrix 6.0, Affymetrix 500K
 
 
 qPCR
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 10K (v2)
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 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
  chen_17_ASD_discovery_controls1
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  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)
  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
  annunziata_21_ASD_discovery_cases-caseIB207
  NA NA
 NA
 M
 ASD
 Case diagnosed with ASD; no additional clinical information available.
 Cognitive profile NA
 186201667
 186688884
  487218
 GRCh38
 Deletion
 Yes
  brand_15_ASD_discovery_cases-case17
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 1 in this case. Duplication previously identified by aCGH (chr 1:187740850-187870882 ; hg19).
 
 187768917
 187909292
  140376
 GRCh38
 Duplication
 No
  celestino-soper_11_ASD_discovery_cases-11076
 NA
 M
 ASD
 NA
 NA
 186358476
 186358659
  184
 GRCh38
 Deletion
 No
  chen_17_ASD_discovery_cases-caseU-728
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 13 (past score 23); Qualitative abnormalities in verbal and nonverbal communication, current score 8 (past score 13); Qualitative abnormalities in nonverbal communication, current score 2 (past score 6); Restricted, repetitive, and stereotyped patterns of behaviour, current score 1 (past score 1); Abnormality of development evident at or before 36 months, past score 1. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 107; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 33. Epilepsy: no history of epilepsy.
 Performance IQ 107, Verbal IQ 109, Full-scale IQ 108
 189415243
 190730171
  1314929
 GRCh38
 Deletion
 Yes
  davis_09_ASD_discovery_cases-AU057905
 NA
 NA
 Non-syndromic ASD
 Diagnosis: broad spectrum autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 187382106
 187458081
  75975
 Unknown
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14381_4940
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 187699597
 187971736
  272140
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1987_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 187318816
 187647523
  328708
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case21003_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 187574022
 187612171
  38150
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3151_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 189212294
 189283397
  71104
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3445_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 187243856
 187298279
  54424
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3475_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 189458629
 189620209
  161581
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4152_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 189527773
 189586599
  58827
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4162_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 189308902
 189554522
  245621
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4466_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 190706406
 190808696
  102291
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6161_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 188505292
 188555036
  49745
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6236_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 187596207
 187629769
  33563
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1097302
 
 
 Autism
 
 
 187701977
 187858801
  156825
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1585301
 
 
 Autism
 
 
 187929464
 188008756
  79293
 Unknown
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1871301
 
 
 Autism
 
 
 185559231
 185881764
  322534
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU012504
 
 
 Autism
 
 
 185866060
 186473980
  607921
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU075704
 
 
 Autism
 
 
 186629947
 187356191
  726245
 Unknown
 Deletion
 No
  kalsner_17_ASD_discovery_cases-case5
 N/A
 N/A
 ASD
 Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
 
 186055652
 186203877
  148226
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004330
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 186792934
 187904115
  1111182
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004367
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 187570860
 188941313
  1370454
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13654.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 185925046
 186048839
  123794
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-SK0132-003
 NA
 M
 ASD
 NA
 NA
 189973112
 190015783
  42672
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-SK0278-003
 NA
 M
 ASD
 NA
 NA
 191842457
 192234548
  392092
 GRCh38
 Duplication
 Yes
  morrow_08_ASD_discovery_cases-case5101
 NA
 
 ASD
 NA
 NA
 186210000
 186691000
  481000
 Unknown
 Duplication
 No
  mosca_16_DCD_discovery_cases-case127803
 N/A
 M
 DCD
 Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis reading disorder; sibling diagnosis ADHD (positive for CNV).
 
 188134205
 188435168
  300964
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case1987_301
 NA
 M
 Autism
 Verbal, no epilepsy; 15q11.2 BP1BP2 microduplication
 Normal IQ
 187318816
 187647523
  328708
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case100573L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 188554873
 188624701
  69829
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case60811
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 187415440
 187452503
  37064
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case82061L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 185444346
 185501473
  57128
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case98320L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 187491501
 187812875
  321375
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11000.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 78; verbal IQ, 50
 189323196
 189385082
  61887
 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
 186671721
 186674232
  2512
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11088.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
 187794729
 187832584
  37856
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11161.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
 189234515
 189323196
  88682
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11324.p1
 11.4
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 34; verbal IQ, 21
 189360969
 189581526
  220558
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11447.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
 189020827
 189067234
  46408
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11447.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
 189802875
 189808111
  5237
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11488.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 80
 187771719
 187901751
  130033
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 189448561
 189468052
  19492
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11616.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
 189466224
 189620209
  153986
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11718.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 108
 186671926
 186673297
  1372
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11723.p1
 6.9
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 105
 186442447
 186449666
  7220
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11776.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 51; verbal IQ, 76
 189255975
 189574446
  318472
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11792.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 100; verbal IQ, 119
 186671926
 186675150
  3225
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11794.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
 189803225
 189808111
  4887
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11808.p1
 8.8
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
 188546757
 188782249
  235493
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12117.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
 189802875
 189808111
  5237
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12233.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 99
 186410133
 186413328
  3196
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12279.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
 189360969
 189581315
  220347
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12361.p1
 4.8
 M
 ASD
 NA
 Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 98
 187441214
 187500472
  59259
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12723.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
 187794729
 187814807
  20079
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12757.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
 187603891
 187612171
  8281
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12788.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 94; verbal IQ, 95
 189429508
 189449374
  19867
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12843.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
 189448561
 189620209
  171649
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12979.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 68; verbal IQ, 65
 189801688
 189886720
  85033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13013.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
 185921921
 185982002
  60082
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13067.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 99; verbal IQ, 88
 188247413
 188321279
  73867
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13076.p1
 6.7
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
 189348424
 189500473
  152050
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13216.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 93
 189458629
 189626517
  167889
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13233.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
 187603891
 187626782
  22892
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 185766781
 185801540
  34760
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 189802875
 189808111
  5237
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 189020827
 189091197
  70371
 GRCh38
 Deletion
 No
  schmitz-abe_20_ASD_discovery_cases-caseAU-16801
 N/A
 M
 ASD
 Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion segregated with ASD in this family.
 
 189990345
 189997245
  6901
 GRCh38
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR058-E4-HI1581
 NA
 
 ASD
 NA
 NA
 188433212
 189137212
  704001
 GRCh38
 Deletion
 Yes
  yin_16_ASD_discovery_cases-case44
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 190022159
 190730171
  708013
 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-controlB351918_1007875243
  N/A
  N/A
  Control
  No previous psychiatric history
 
  190067010
  190104924
  37915
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB400915_1007875841
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189448561
  189479446
  30886
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB493911_1007842333
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189654834
  189754493
  99660
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB511124_1007875799
  N/A
  N/A
  Control
  No previous psychiatric history
 
  190036210
  190082217
  46008
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB594795_1007871727
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189212294
  189283397
  71104
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB724913_1007872636
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189779721
  189826866
  47146
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB728312_1007844360
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189212294
  189283397
  71104
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB757086_1007854685
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189308902
  189554522
  245621
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB799314_0057057099
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189234515
  189317686
  83172
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB806145_1007873615
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189212294
  189283397
  71104
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB823925_0067942577
  N/A
  N/A
  Control
  No previous psychiatric history
 
  190036210
  190082217
  46008
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB876806_1007852537
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189671682
  189716367
  44686
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB981601_1007842471
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189654834
  189729484
  74651
  GRCh38
  Homozygous deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900026_900026
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189044856
  189158993
  114138
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900162_900162
  N/A
  N/A
  Control
  No previous psychiatric history
 
  188116702
  188263873
  147172
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900204_900204
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189203553
  189283397
  79845
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900213_900213
  N/A
  N/A
  Control
  No previous psychiatric history
 
  188407679
  188479092
  71414
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900235_900235
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189234515
  189317686
  83172
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900360_900360
  N/A
  N/A
  Control
  No previous psychiatric history
 
  188678324
  188725967
  47644
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900458_900458
  N/A
  N/A
  Control
  No previous psychiatric history
 
  186563099
  186611873
  48775
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900968_900968
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189448561
  189626517
  177957
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901173_901173
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189266117
  189374493
  108377
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902450_902450
  N/A
  N/A
  Control
  No previous psychiatric history
 
  188110883
  188326915
  216033
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902513_902513
  N/A
  N/A
  Control
  No previous psychiatric history
 
  190357498
  190402541
  45044
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902950_902950
  N/A
  N/A
  Control
  No previous psychiatric history
 
  187441214
  187500102
  58889
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1095
  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
 
  187309604
  187311620
  2017
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12518.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12518. SRS score of 54.
 
  190226081
  190281750
  55670
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control12518.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  190226081
  190281750
  55670
  GRCh38
  Deletion
  Yes
  nord_11_ASD_discovery_controls-04C27918
 
 
  Control
 
 
  188254890
  188323069
  68180
  Unknown
  Deletion
 
  poultney_13_ASD_discovery_controls-control05C40314A
  N/A
  M
  Control
  NIMH Control (NIMH ID 94311)
 
  186443977
  186449461
  5485
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11000.s1
  16.8
  F
  Control (matched sibling)
  NA
  NA
  189332548
  189374493
  41946
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11040.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  186671571
  186675150
  3580
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11161.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  189234515
  189324798
  90284
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11201.s1
  10.6
  M
  Control (matched sibling)
  NA
  NA
  186998061
  187145621
  147561
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11324.s1
  13
  F
  Control (matched sibling)
  NA
  NA
  189360969
  189581315
  220347
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11379.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  189280390
  189313672
  33283
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11429.s1
  18.6
  M
  Control (matched sibling)
  NA
  NA
  189793348
  189838913
  45566
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11447.s1
  8.4
  F
  Control (matched sibling)
  NA
  NA
  189020827
  189067234
  46408
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11488.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  187771719
  187901751
  130033
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11502.s1
  13.2
  M
  Control (matched sibling)
  NA
  NA
  189676189
  189703098
  26910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  189448561
  189466224
  17664
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11568.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  187603891
  187633121
  29231
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11575.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  189360969
  189581526
  220558
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11616.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  189458629
  189620209
  161581
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11723.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  186442447
  186449666
  7220
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11808.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  188550835
  188782249
  231415
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11966.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  189866390
  189909464
  43075
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  189802875
  189808111
  5237
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12518.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  190213056
  190393805
  180750
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12610.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  187596207
  187626782
  30576
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12695.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  189360969
  189574446
  213478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12788.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  189429508
  189458629
  29122
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12892.s1
  15.4
  F
  Control (matched sibling)
  NA
  NA
  187109144
  187145621
  36478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13051.s1
  9.4
  F
  Control (matched sibling)
  NA
  NA
  186442447
  186449666
  7220
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13233.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  189020827
  189080886
  60060
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13303.s1
  17.5
  M
  Control (matched sibling)
  NA
  NA
  188856439
  188907812
  51374
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 annunziata_21_ASD_discovery_cases-caseIB207
 qPCR, FISH
 
 Maternal
 
 
 ODR4,PDC,PTGS2,PACERR,PDC-AS1,TPR,RNU6-1240P,PRG4
 
 brand_15_ASD_discovery_cases-case17
 
 
 Maternal
 Simplex
 Unknown
 
 
 celestino-soper_11_ASD_discovery_cases-11076
 
 
 Unknown
 Simplex
 NA
 TPR
 
 chen_17_ASD_discovery_cases-caseU-728
 RT-qPCR
 
 Unknown
 
 
 RNA5SP73,LINC01351,BRINP3,LINC01720,LINC01701
 
 davis_09_ASD_discovery_cases-AU057905
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 engchuan_15_ASD_discovery_cases-case14381_4940
 
 
 Unknown
 
 
 SLC4A1APP2
 
 engchuan_15_ASD_discovery_cases-case1987_301
 
 
 Unknown
 
 
 ERVMER61-1,FDPSP1
 
 engchuan_15_ASD_discovery_cases-case21003_1
 
 
 Unknown
 
 
 ERVMER61-1
 
 engchuan_15_ASD_discovery_cases-case3151_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3445_3
 
 
 Unknown
 
 
 ERVMER61-1
 
 engchuan_15_ASD_discovery_cases-case3475_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4152_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4162_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4466_1
 
 
 Unknown
 
 
 LINC01720
 
 engchuan_15_ASD_discovery_cases-case6161_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6236_4
 
 
 Unknown
 
 
 ERVMER61-1
 
 gai_11_ASD_discovery_cases-AU1097302
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1585301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1871301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU012504
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU075704
 
 
 Inherited
 
 
 0 genes
 
 kalsner_17_ASD_discovery_cases-case5
 
 
 Unknown
 Unknown
 Unknown
 HMCN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004330
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SLC4A1APP2,PLA2G4A,ERVMER61-1,FDPSP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004367
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SLC4A1APP2,RN7SKP156,RPS3AP9,ERVMER61-1,LINC01035
 
 krumm_15_ASD_discovery_cases-case13654.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 HMCN1
 
 marshall_08_ASD_discovery_cases-SK0132-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 
 
 marshall_08_ASD_discovery_cases-SK0278-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 RGS18
 
 morrow_08_ASD_discovery_cases-case5101
 
 
 Maternal
 NA
 NA
 3' end of FAM5C
 
 mosca_16_DCD_discovery_cases-case127803
 qPCR
 
 Paternal
 Multi-generational
 Segregated
 RN7SKP156
 
 pinto_10_ASD_discovery_cases-case1987_301
 Illumina550
 
 paternal
 NA
 NA
 ERVMER61-1,FDPSP1
 
 prasad_12_ASD_discovery_cases-case100573L
 
 
 Unknown
 Unknown
 Unknown
 FAM5C
 
 prasad_12_ASD_discovery_cases-case60811
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case82061L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case98320L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11000.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11001.p1
 
 
 Unknown
 Simplex (trio)
 NA
 PTGS2
 
 sanders_11_ASD_discovery_cases-11088.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11161.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11324.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11447.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CLPTM1LP1,LINC01035
 
 sanders_11_ASD_discovery_cases-11447.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01701
 
 sanders_11_ASD_discovery_cases-11488.p1
 
 
 Maternal
 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-11616.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11718.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 PTGS2
 
 sanders_11_ASD_discovery_cases-11723.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PDC
 
 sanders_11_ASD_discovery_cases-11776.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11792.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 PTGS2
 
 sanders_11_ASD_discovery_cases-11794.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01701
 
 sanders_11_ASD_discovery_cases-11808.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RPS3AP9
 
 sanders_11_ASD_discovery_cases-12117.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01701
 
 sanders_11_ASD_discovery_cases-12233.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ODR4
 
 sanders_11_ASD_discovery_cases-12279.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12361.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ERVMER61-1
 
 sanders_11_ASD_discovery_cases-12723.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12757.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ERVMER61-1
 
 sanders_11_ASD_discovery_cases-12788.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12843.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12979.p1
 
 
 Paternal
 Simplex (trio)
 NA
 LINC01701
 
 sanders_11_ASD_discovery_cases-13013.p1
 
 
 Unknown
 Simplex (trio)
 NA
 HMCN1
 
 sanders_11_ASD_discovery_cases-13067.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13076.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13216.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13233.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ERVMER61-1
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 HMCN1
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01701
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CLPTM1LP1,LINC01035
 
 schmitz-abe_20_ASD_discovery_cases-caseAU-16801
 qPCR
 
 Both parents
 Simplex
 Segregated
 
 
 szatmari_07_ASD_discovery_cases-NAAR058-E4-HI1581
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 CLPTM1LP1,GAPDHP75,RPS3AP9,LINC01035
 
 yin_16_ASD_discovery_cases-case44
 
 
 Unknown
 Unknown
 Unknown
 LINC01351,BRINP3,LINC01720
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB351918_1007875243
 
 
  Unknown
 
 
  BRINP3
 
engchuan_15_ASD_discovery_controls-controlB400915_1007875841
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB493911_1007842333
 
 
  Unknown
 
 
  RNA5SP73
 
engchuan_15_ASD_discovery_controls-controlB511124_1007875799
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB594795_1007871727
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB724913_1007872636
 
 
  Unknown
 
 
  LINC01701
 
engchuan_15_ASD_discovery_controls-controlB728312_1007844360
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB757086_1007854685
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB799314_0057057099
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB806145_1007873615
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB823925_0067942577
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB876806_1007852537
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB981601_1007842471
 
 
  Unknown
 
 
  RNA5SP73
 
engchuan_15_ASD_discovery_controls-controlHABC_900026_900026
 
 
  Unknown
 
 
  GAPDHP75
 
engchuan_15_ASD_discovery_controls-controlHABC_900162_900162
 
 
  Unknown
 
 
  RN7SKP156
 
engchuan_15_ASD_discovery_controls-controlHABC_900204_900204
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900213_900213
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900235_900235
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900360_900360
 
 
  Unknown
 
 
  RPS3AP9
 
engchuan_15_ASD_discovery_controls-controlHABC_900458_900458
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900968_900968
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901173_901173
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902450_902450
 
 
  Unknown
 
 
  RN7SKP156
 
engchuan_15_ASD_discovery_controls-controlHABC_902513_902513
 
 
  Unknown
 
 
  BRINP3
 
engchuan_15_ASD_discovery_controls-controlHABC_902950_902950
 
 
  Unknown
 
 
  ERVMER61-1
 
kanduri_15_ASD_discovery_controls-control_split1095
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, PLA2G4A(dist=351491)
 
krumm_13_ASD_discovery_controls-control12518.s1
 
 
  Maternal
  Simplex
 
  BRINP3
 
krumm_15_ASD_discovery_controls-control12518.s1
  Illumina 1MDuo
 
  Maternal
 
 
  BRINP3
 
nord_11_ASD_discovery_controls-04C27918
 
 
 
 
 
  0 genes
 
poultney_13_ASD_discovery_controls-control05C40314A
 
 
  Unknown
 
 
  PDC
 
sanders_11_ASD_discovery_controls-11000.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11040.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PTGS2
 
sanders_11_ASD_discovery_controls-11161.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11201.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ERVMER61-1
 
sanders_11_ASD_discovery_controls-11324.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11379.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11429.s1
 
 
  Unknown
  Simplex (quad)
  NA
  LINC01701
 
sanders_11_ASD_discovery_controls-11447.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CLPTM1LP1,LINC01035
 
sanders_11_ASD_discovery_controls-11488.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11502.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11568.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ERVMER61-1
 
sanders_11_ASD_discovery_controls-11575.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11616.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11723.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PDC
 
sanders_11_ASD_discovery_controls-11808.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RPS3AP9
 
sanders_11_ASD_discovery_controls-11966.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01701
 
sanders_11_ASD_discovery_controls-12518.s1
 
 
  Maternal
  Simplex (quad)
  NA
  BRINP3
 
sanders_11_ASD_discovery_controls-12610.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ERVMER61-1
 
sanders_11_ASD_discovery_controls-12695.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12788.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12892.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ERVMER61-1
 
sanders_11_ASD_discovery_controls-13051.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PDC
 
sanders_11_ASD_discovery_controls-13233.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CLPTM1LP1,LINC01035
 
sanders_11_ASD_discovery_controls-13303.s1
 
 
  Unknown
  Simplex (quad)
  NA
  LINC01035
 

No Animal Model Data Available
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