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6q21CNV Type: Deletion-Duplication


Largest CNV size: 175296 bp

Statistics Box:
Number of Reports: 23


Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication
NA
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Duplication
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Deletion
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
NA
Duplication
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene
Duplication
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases
  NA NA
 Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
 45
 The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
 Range, 6 months-25 years
 48.89% Male
 380164
 0
 1
 1
 bacchelli_19_ASD_discovery_cases
 Siblings diagnosed with ASD born to unaffected parents with a maternally-inherited 2p11.2 deletion affecting the ELMOD3, CAPG, and SH2D6 genes
 2
 Cases diagnosed with ASD using ADOS protocols and clinical evaluation according to DSM-IV criteria
 N/A
 Male
 N/A
 0
 1
 1
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 1600000
 1
 0
 1
 berkel_10_ASD_discovery_cases
 Unrelated ASD probands ascertained at Hospital for Sick Children (Toronto) and McMaster Univ. (Hamilton). ASD probands also described in Marshall et al., 2008 CNV report.
 396
 ASD (diagnosis made using ADI-R and ADOS measures)
 
 80.30% Male
 98376
 0
 1
 1
 beunders_13_DD/ID/ASD_discovery_cases
 Individuals from ten diagnostic centers in the Netherlands, Belgium, Great Britian, the United States, and Canada
 49684
 Intellectual disability and/or mulitple congenital anomalies
 NA
 NA
 7092212
 1
 0
 1
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 352
 1
 0
 1
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 3526
 2
 0
 2
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 2400000
 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
 217658
 4
 3
 7
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 1025787
 1
 0
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 380000
 2
 0
 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
 888004
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 10770
 0
 1
 1
 leblond_12_ASD_replication_cases
 Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
 2
 1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
 NA
 100% Male
 98376
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 175296
 2
 0
 2
 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
 
 
 96112
 0
 1
 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
 287259
 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
 
 
 98376
 0
 3
 3
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 11480
 1
 2
 3
 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
 99682
 0
 3
 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
 173830
 79
 6
 85
 srivastava_21_ASD/ID/EP_discovery_cases
 Monozygotic twins with a de novo 6q21 deletion affecting the WASF1 gene.
 2
 Both siblings presented with autism, profound intellectual disability, and epilepsy/seizures.
 15 yrs.
 Female
 180199
 2
 0
 2
 tropeano_13_DD/ASD_discovery_cases
 Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).
 10397
 Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.
 N/A
 63.4% Male
 1402784
 0
 1
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 368268
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 beunders_13_DD/ID/ASD_discovery_controls
 Control cohort comprised of Ottawa Heart Institute (OHI) controls from Canada (n=1234), POPGEN controls from Germany (n=1123), SAGE controls from the United States (n=1287), Welcome Trust (WTCCC) controls (n=4783), HapMap Phase 3 controls (n=1056), Lowlands Consortium controls (n=981), and a combined adult controls set (HGDP, NINDS, and others; n=6239)
 16784
 Control
 NA
 NA
 7092212
 NA
 NA
 NA
 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
 1641509
 2
 7
 9
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 0
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 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
 12365
 2
 0
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 12153
 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)
 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)
 99682
 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.
 
 10775
 72
 6
 78
 tropeano_13_DD/ASD_discovery_controls
 Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)
 11277
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 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
 368268
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases
  France, Belgium
 aCGH, solid phase hybridization
  Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
 
 
 None
 bacchelli_19_ASD_discovery_cases
  Sardinia
 Solid phase hybridization
  Illumina Human1M-Duo BeadChip
 PennCNV, QuantiSNP, CNVPartition
 GenomeStudio v2010.3
 None
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 berkel_10_ASD_discovery_cases
  Canadian
 Array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M
 Birdsuite, Affymetrix Genotyping Console, iPattern, QuantiSNP, iPattern, PennCNV
 
 None
 beunders_13_DD/ID/ASD_discovery_cases
  NA
 aCGH, array SNP, solid phase hybridization
  Multiple platforms including Agilent 105K/180K/244K, custom Roche Nimblegen 135K, Affymetrix 2.7M/6.0, Illumina Omni 2.5M, SignatureChipOS v2.0, & BlueGnome CytoChip ISCA 60K
 
 
 None
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 leblond_12_ASD_replication_cases
  1 Canadian, 1 French
 Solid phase hybridization
  Illumina 1M SNP array
 QuantiSNP, PennCNV
 
 aCGH (Agilent 1M)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 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
 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)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 
 
 srivastava_21_ASD/ID/EP_discovery_cases
  N/A
 aCGH
  N/A
 N/A
 N/A
 None
 tropeano_13_DD/ASD_discovery_cases
  70% Caucasian, 15% African, 15% other/mixed ancestry
 aCGH
  Agilent 60K
 
 Feature Extraction, DNA Analytics
 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
  beunders_13_DD/ID/ASD_discovery_controls
  NA
  aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina 1M, Illumina 240K-650K, Agilent 105K/185K
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13a_ASD_discovery_controls1
  NA
  aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
  ADM-2
  Agilent Genomic Workbench
  None
  girirajan_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 
  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
 
 
  tropeano_13_DD/ASD_discovery_controls
  77% Caucasian, 8.5% African, 14.5% other/mixed ancestry
  Solid phase hybridization
  Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
 
 
  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
  allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case9
  NA NA
 3 yrs.
 M
 ASD, developmental delay, and learning disabilities
 Birth/neonatal history: uneventful prenatal period; birth weight 60th %ile, length 50th %ile, OFC 10th %ile. Developmental milestones: developmental delay, speech delay. Behavioral/psychiatric evaluation: ASD, sleep disorders. Dysmorphic features: epicanthus, short and marked philtrum, small mouth.
 Learning disabilities
 106176767
 106556930
  380164
 GRCh38
 Duplication
 No
  bacchelli_19_ASD_discovery_cases-caseAUT003.3
 N/A
 M
 ASD
 Case diagnosed with PDD-NOS at age of 7 years according to DSM-IV criteria. Motor and musculoskeletal evaluation: significant global motor clumsiness. Behavioral/psychiatric evaluation: deficit in reciprocal social interaction, restricted and repetitive interests, difficulty in changes in routine of daily life, deficit of eye contact. Family history: similarly affected brother who does not have this CNV.
 Leiter-R Intelligence Quotient (IQ) score of 106
 N/A
 N/A
  N/A
 GRCh37
 Duplication
 No
  battaglia_13_DD/ID/ASD_discovery_cases-case71
 11 mos.
 F
 Developmental delay/intellectual disability
 Autism: no. Epilepsy: no. Dysmorphic features: yes.
 Mild DD/ID
 105344559
 107107405
  1762847
 GRCh38
 Deletion
 Yes
  berkel_10_ASD_discovery_cases-SK0217-003
 NA
 F
 ASD
 Final research diagnosis of autism (ADOS). ADOS (module 2) scores: communication, 6; social interaction, 10; total, 16; severity score, 8. Normal growth and phenotype; motor delay evident at 5 months; slow reactions and adaption; little mimic. Normal family history. Proband was previously described in Marshall et al., 2008 CNV study (only the 6q21 duplication was identified in that study)
 Leiter-R brief full-scale IQ: 67 (1 %ile)
 
 
  98376
 NCBI36
 Duplication
 No
  beunders_13_DD/ID/ASD_discovery_cases-case44
 NA
 F
 DD/ID and/or MCA
 Clinical profile: N/A
 Cognitive profile: N/A
 105243585
 112462470
  7218886
 GRCh38
 Deletion
 No
  brandler_18_ASD_discovery_cases-caseMT_121.3
 N/A
 M
 ASD
 Case from REACH cohort
 
 113198260
 113198612
  353
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-caseAU2029302
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 111850856
 111854381
  3526
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-caseAU2029303
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 111850856
 111854381
  3526
 GRCh38
 Deletion
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_296462
  NA NA
 N/A
 F
 Cognitive impairment and DD/ID
 Facial dysmorphic features, microcephaly, thin hair, hypertelorism, epicanthus, craniosynostosis with proptosis due to orbital hypoplasia, depressed nasal bridge, smooth philtrum, thin lips, micrognathia, hypotonia, ligamentous laxity, severe dyspraxia, moderate developmental delay
 Cognitive impairment, moderate intellectual disability
 106279656
 108800341
  2520686
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case14342_4560
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 111120894
 111338552
  217659
 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)
 
 109530734
 109676091
  145358
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20030_1166001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 104568323
 104678092
  109770
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2300_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 109917063
 109969537
  52475
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4451_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 111983666
 112015809
  32144
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5237_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 112252578
 112350953
  98376
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5510_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 104449043
 104486604
  37562
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000042
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S48
 N/A
 107210254
 108236041
  1025788
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-12212.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 106695432
 107202103
  506672
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-AU0039301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 106695432
 107202103
  506672
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000828
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 112309208
 113197212
  888005
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005187
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 106143607
 106716817
  573211
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13009.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 110219363
 110230133
  10771
 GRCh38
 Duplication
 Yes
  leblond_12_ASD_replication_cases-Pintocase5237_3
 NA
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
 Below average non-verbal IQ (<1st %ile)
 112252578
 112350953
  98376
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11416.p1
 NA
 M
 ASD
 NA
 NA
 108405910
 108451523
  45614
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-12212.p1
 NA
 M
 ASD
 NA
 NA
 107170997
 107346292
  175296
 GRCh38
 Deletion
 No
  marshall_08_ASD_discovery_cases-SK0217-003
 NA
 M
 ASD
 NA
 NA
 112252087
 112348199
  96113
 GRCh38
 Duplication
 Yes
  o'roak_12_ASD_discovery_cases-case12212.p1
 NA
 M
 ASD/Autism
 Case also identified with de novo DDR2 missense mutation, de novo C15orf62 read-through mutation, and de novo GRIN3B synonymous mutation. No additional clinical info available.
 Low IQ. Non verbal IQ, 29
 107172026
 107459285
  287260
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case13094_1113
 NA
 M
 Autism
 Non-verbal
 Normal IQ
 108415352
 108444960
  29608
 Unknown
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5237_3
 NA
 M
 Autism
 Below average language (<1%ile), no epilepsy, 5th finger clinodactyly, several curled toes
 Below average nonverbal IQ (1%ile)
 112252578
 112350953
  98376
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5510_3
 NA
 M
 ASD
 NA
 NA
 104449043
 104486604
  37562
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case00HI1481A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0039301; NDAR ID NDAR_INVGP517FDJ)
 
 107039759
 107051238
  11480
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case98HI0591B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU015003; NDAR ID NDAR_INVXP603RMN)
 
 107039759
 107051238
  11480
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-caseHI0699
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU043603; NDAR ID NDAR_INVGX799AA5)
 
 110887503
 110893618
  6116
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case113501L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 112681477
 112781158
  99682
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case50681L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 108772482
 108784982
  12501
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case68711
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 107890405
 107905049
  14645
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11013.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 132; non-verbal IQ, 137; verbal IQ, 119
 110075337
 110091056
  15720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11047.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11079.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
 110075337
 110091056
  15720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11086.p1
 7.4
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
 110075337
 110093546
  18210
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11097.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ 99
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11144.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
 110075337
 110091056
  15720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11189.p1
 14.5
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 77; verbal IQ, 37
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11246.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11250.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
 110075337
 110091056
  15720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11263.p1
 13.2
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 92
 104458072
 104486604
  28533
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11328.p1
 7.7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 81
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11359.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 81
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11400.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 103
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11401.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 93
 110075337
 110091056
  15720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11415.p1
 11.6
 M
 ASD
 NA
 Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 76
 110075337
 110091056
  15720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11421.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11458.p1
 16.4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126
 110075337
 110091056
  15720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11537.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11587.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144
 110075337
 110091056
  15720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11592.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11676.p1
 7.1
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11698.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11733.p1
 5.5
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
 110075337
 110091056
  15720
 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
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11793.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 129
 110075337
 110093546
  18210
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11806.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102
 110075337
 110093546
  18210
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11824.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72
 104458072
 104484273
  26202
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11827.p1
 17.8
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 125; verbal IQ, 73
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11834.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46
 110075337
 110091056
  15720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11834.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11855.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
 110075337
 110091056
  15720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11863.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 123; verbal IQ, 114
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11869.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
 104458072
 104486604
  28533
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11878.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
 110075337
 110093546
  18210
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11888.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 75
 104458072
 104486604
  28533
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11909.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11922.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
 110075337
 110091056
  15720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11946.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 37
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11977.p1
 10.2
 M
 ASD
 NA
 Full-scale IQ, 74; non-verbal IQ, 74; verbal IQ, 80
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12011.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 83
 110075337
 110089862
  14526
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12041.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
 108338282
 108346080
  7799
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12093.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 97
 110075337
 110089862
  14526
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12101.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 38
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12113.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
 104458072
 104486604
  28533
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12139.p1
 4.3
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 106; verbal IQ, 86
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12157.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 93
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12173.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 92; verbal IQ, 93
 110075337
 110091056
  15720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12194.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
 110075337
 110093546
  18210
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12212.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 20
 107172214
 107346044
  173831
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12243.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
 110075337
 110089862
  14526
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12315.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
 111911783
 111974340
  62558
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12396.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12418.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12429.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
 110075337
 110089862
  14526
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12456.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12492.p1
 15.4
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 30; verbal IQ, 19
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12507.p1
 18
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 73; verbal IQ, 100
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12536.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81
 110075337
 110091056
  15720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12581.p1
 12.4
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12594.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 112892795
 112913741
  20947
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12594.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 112819465
 112845950
  26486
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12595.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 122; verbal IQ, 108
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12619.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12641.p1
 10.3
 F
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 63
 107007115
 107051008
  43894
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12643.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 70; verbal IQ, 40
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12652.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 79; verbal IQ, 69
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12676.p1
 11.5
 M
 ASD
 NA
 Full-scale IQ, 110; non-verbal IQ, 107; verbal IQ, 114
 110075337
 110093546
  18210
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12722.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12827.p1
 5.5
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12894.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12956.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
 104519019
 104535910
  16892
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12969.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 78; verbal IQ, 70
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12972.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
 105132265
 105154233
  21969
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12984.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
 108289437
 108295849
  6413
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13010.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 122; verbal IQ, 99
 110075337
 110093546
  18210
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13016.p1
 5.5
 M
 Aspergers
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
 110075337
 110089862
  14526
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13048.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13057.p1
 4.2
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 118; verbal IQ, 87
 110075337
 110091056
  15720
 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
 108290662
 108293148
  2487
 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
 108289437
 108293148
  3712
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13077.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13144.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 119; verbal IQ, 95
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13153.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13153.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
 104430674
 104486604
  55931
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13304.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
 108290662
 108293148
  2487
 GRCh38
 Deletion
 No
  srivastava_21_ASD/ID/EP_discovery_cases-case1
 15 yrs.
 F
 ASD, intellectual disability, and epilepsy/seizures
 Birth/neonatal history: conceived by in vitro fertilization; pregnancy complicated by concerns for twin-twin transfusion; delivery at 26 weeks by caesarean section; NICU stay afterwards. Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: repetitive hand movements, inability to walk independently, axial hypotonia, appendicular hypertonia (spasticity/dystonia), camptodactyly. Behavioral/psychiatric evaluation: autism, aggressive behavior, disrupted sleep. Epilepsy/seizures: generalized tonic seizures. EEG: diffuse slowing at 15 years. Brain imaging: porencephalic cyst (sequela of prior intraventricular and intraparenchymal hemorrhage) detected by brain MRI at 15 months. Additional medical history: cortical visual impairment, strabismus, optic atrophy, cafe-au-lait macules, lentiginous compound nevus, vasomotor instability. Dysmorphic features: triangular face, midface hypoplasia, upslanting palpebral fissures, pointed chin. Growth parameters: microcephaly. Family history: similarly affected monozygotic twin.
 Profound intellectual disability
 109922065
 110102263
  180199
 GRCh38
 Deletion
 No
  srivastava_21_ASD/ID/EP_discovery_cases-case2
 15 yrs.
 F
 ASD, intellectual disability, and epilepsy/seizures
 Birth/neonatal history: conceived by in vitro fertilization; pregnancy complicated by concerns for twin-twin transfusion; delivery at 26 weeks by caesarean section; NICU stay afterwards. Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: inability to walk independently, axial hypotonia, midline hand stereotypies. Behavioral/psychiatric evaluation: autism, anxiety, disrupted sleep. Epilepsy/seizures: tonic seizures with atonic components. EEG: diffuse slowing and frontal spikes in sleep at 14 years). Additional medical history: cortical visual impairment, strabismus, vasomotor instability. Dysmorphic features: triangular face, midface hypoplasia, upslanting palpebral fissures. Growth parameters: microcephaly. Family history: similarly affected monozygotic twin.
 Profound intellectual disability
 109922065
 110102263
  180199
 GRCh38
 Deletion
 No
  tropeano_13_DD/ASD_discovery_cases-case3
 7 yrs.
 M
 ASD
 ASD
 
 105100994
 106503778
  1402785
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case249
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 111048534
 111416801
  368268
 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-controlB147560_1007872587
  N/A
  N/A
  Control
  No previous psychiatric history
 
  104437407
  104486604
  49198
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB276080_1007853614
  N/A
  N/A
  Control
  No previous psychiatric history
 
  104449043
  104486604
  37562
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB277390_1007875280
  N/A
  N/A
  Control
  No previous psychiatric history
 
  110075337
  110232751
  157415
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB324229_1007854374
  N/A
  N/A
  Control
  No previous psychiatric history
 
  110211602
  110253053
  41452
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB567421_1007848476
  N/A
  N/A
  Control
  No previous psychiatric history
 
  111228554
  111264156
  35603
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB746547_1007874360
  N/A
  N/A
  Control
  No previous psychiatric history
 
  105218402
  106859910
  1641509
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB855930_1007853688
  N/A
  N/A
  Control
  No previous psychiatric history
 
  110814294
  110916284
  101991
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902567_902567
  N/A
  N/A
  Control
  No previous psychiatric history
 
  104312681
  104448419
  135739
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902567_902567
  N/A
  N/A
  Control
  No previous psychiatric history
 
  104526356
  104691009
  164654
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1293
  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
 
  112937551
  112941943
  4393
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split282
  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
 
  110396540
  110408904
  12365
  Unknown
  Deletion
  No
  nord_11_ASD_discovery_controls-04C28240
 
 
  Control
 
 
  112432342
  112444494
  12153
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11011.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  104458072
  104486604
  28533
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11013.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11043.s1
  11.5
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11047.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11057.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11059.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  104763239
  104843537
  80299
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11141.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  104705739
  104860718
  154980
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11148.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  110334181
  110340251
  6071
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11201.s1
  10.6
  M
  Control (matched sibling)
  NA
  NA
  109917063
  109969537
  52475
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11203.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11203.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11246.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11250.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11282.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  108280982
  108293148
  12167
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11312.s1
  12.6
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11328.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11357.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11390.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11401.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11415.s1
  13.6
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11458.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11458.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11499.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  108289437
  108293148
  3712
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11519.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11519.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  104797546
  104823015
  25470
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11557.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11561.s1
  8.9
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11573.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11629.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11642.s1
  7.6
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11714.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11720.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  110075337
  110093546
  18210
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11793.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11798.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11827.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11834.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11834.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11888.s1
  9.6
  M
  Control (matched sibling)
  NA
  NA
  104458072
  104486604
  28533
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11894.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110093546
  18210
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11909.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11911.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11969.s1
  17.5
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108292170
  1509
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11977.s1
  13.3
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11990.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12011.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110089862
  14526
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12036.s1
  5.9
  F
  Control (matched sibling)
  NA
  NA
  110075337
  110089862
  14526
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12036.s1
  5.9
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12113.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  104458072
  104486604
  28533
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12153.s1
  16.5
  F
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12211.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12272.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  104458072
  104480313
  22242
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12308.s1
  9.6
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12327.s1
  16.3
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12351.s1
  15.3
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12370.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12418.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12507.s1
  26.1
  F
  Control (matched sibling)
  NA
  NA
  104458072
  104486604
  28533
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12523.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12552.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12581.s1
  15.7
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12619.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12631.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110093546
  18210
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12652.s1
  4.1
  F
  Control (matched sibling)
  NA
  NA
  108289437
  108293148
  3712
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12676.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110089862
  14526
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12703.s1
  15.3
  F
  Control (matched sibling)
  NA
  NA
  107007115
  107055595
  48481
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12722.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12735.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12794.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110100158
  24822
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12798.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12937.s1
  18.9
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12956.s1
  7.4
  F
  Control (matched sibling)
  NA
  NA
  107030594
  107055595
  25002
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12984.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  108289437
  108293148
  3712
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13018.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13021.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13104.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  112306941
  112313994
  7054
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13153.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  108290662
  108293148
  2487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13153.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  104458072
  104486604
  28533
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13193.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  110075337
  110091056
  15720
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case9
 
 
 Paternal
 
 Unknown
 RN7SL47P,RNU6-344P,RNA5SP211,ATG5,CRYBG1
 
 bacchelli_19_ASD_discovery_cases-caseAUT003.3
 
 
 Paternal
 Multiplex
 Not segregated
 BEND3,PDSS2
 
 battaglia_13_DD/ID/ASD_discovery_cases-case71
 FISH or qPCR
 
 De novo
 Unknown
 Unknown
 RN7SKP211,RN7SL47P,RNU6-344P,RNA5SP211,RNU6-527P,RPL21P65,LINC02526,RNU6-117P,MIR587,PRDM1,RTN4IP1,QRSL1,LINC02532,CD24,C6orf203,PREP,ATG5,CRYBG1,BEND3
 
 berkel_10_ASD_discovery_cases-SK0217-003
 
 
 Paternal
 Simplex
 Unknown
 RFPL4B, LAMA4
 
 beunders_13_DD/ID/ASD_discovery_cases-case44
 
 
 Unknown
 Unknown
 Unknown
 RPL35P3,RN7SKP211,RN7SL47P,RNU6-344P,RNA5SP211,RNU6-527P,RPL21P65,LINC02526,RNU6-117P,MIR587,RNU6-1299P,RPS24P12,RNU6-437P,RPL23AP50,MTHFD2P3,RPL3P7,RNA5SP212,RNU6-1144P,RNU6-770P,SUMO2P8,ZNF259P1,ARMC2-AS1,RNU6-653P,PTCHD3P3,RNY3P11,RPL7P28,SMPD2,GPR6,RN7SL617P,RNU6-957P,SNORA40C,RNU6-1115P,CNN2P9,GTF3C6,GSTM2P1,RNU6-960P,FCF1P5,REV3L-IT1,BRD7P4,LINC02527,RNU6-1226P,RFPL4B,RPSAP45,FEM1AP3,PRDM1,RTN4IP1,QRSL1,LINC02532,CD24,C6orf203,NR2E1,SNX3,LINC00222,CEP57L1,CD164,PPIL6,ZBTB24,METTL24,DDO,SLC22A16,MFSD4B,TRAF3IP2,TUBE1,FAM229B,KRT18P65,PREP,ATG5,CRYBG1,BEND3,PDSS2,SOBP,SCML4,SEC63,OSTM1,OSTM1-AS1,AFG1L,FOXO3,ARMC2,CCDC162P,MICAL1,AK9,FIG4,CDC40,CDK19,AMD1,RPF2,REV3L,TRAF3IP2-AS1,FYN,WASF1,SLC16A10,LAMA4,SESN1
 
 brandler_18_ASD_discovery_cases-caseMT_121.3
 Not available
 
 Unknown
 
 
 
 
 brandler_18_ASD_replication_cases-caseAU2029302
 No validation step reported
 
 Paternal
 
 
 FYN
 
 brandler_18_ASD_replication_cases-caseAU2029303
 No validation step reported
 
 Paternal
 
 
 FYN
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_296462
 qPCR
 
 De novo
 
 
 RN7SL47P,RNU6-344P,RNA5SP211,RNU6-527P,RPL21P65,LINC02526,RNU6-117P,MIR587,RNU6-1299P,RPS24P12,RNU6-437P,RPL23AP50,MTHFD2P3,RPL3P7,RNA5SP212,RNU6-1144P,RNU6-770P,SUMO2P8,ZNF259P1,RTN4IP1,QRSL1,LINC02532,CD24,C6orf203,NR2E1,SNX3,LINC00222,ATG5,CRYBG1,BEND3,PDSS2,SOBP,SCML4,SEC63,OSTM1,OSTM1-AS1,AFG1L,FOXO3
 
 engchuan_15_ASD_discovery_cases-case14342_4560
 
 
 Unknown
 
 
 MFSD4B,REV3L,SLC16A10
 
 engchuan_15_ASD_discovery_cases-case16029_1571001001
 
 
 Unknown
 
 
 AK9
 
 engchuan_15_ASD_discovery_cases-case20030_1166001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case2300_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4451_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5237_3
 
 
 Unknown
 
 
 RFPL4B,LAMA4
 
 engchuan_15_ASD_discovery_cases-case5510_3
 
 
 Unknown
 
 
 
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000042
 
 
 De novo
 Unknown
 Unknown
 RPS24P12,RNU6-437P,RPL23AP50,MTHFD2P3,RPL3P7,NR2E1,SNX3,PDSS2,SOBP,SCML4,SEC63,OSTM1,OSTM1-AS1
 
 girirajan_13a_ASD_discovery_cases-12212.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 LINC02526,RNU6-117P,MIR587,RNU6-1299P,LINC02532,CD24,C6orf203,BEND3,PDSS2
 
 girirajan_13a_ASD_discovery_cases-AU0039301
 aCGH (NimbleGen 135K array)
 
 Maternal
 Multiplex
 Unknown
 LINC02526,RNU6-117P,MIR587,RNU6-1299P,LINC02532,CD24,C6orf203,BEND3,PDSS2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000828
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RFPL4B,RPSAP45,FEM1AP3,RNU6-1163P,FCF1P10,KRT18P65
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005187
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RN7SL47P,RNU6-344P,RNA5SP211,RNU6-527P,RPL21P65,LINC02526,RTN4IP1,QRSL1,ATG5,CRYBG1
 
 krumm_15_ASD_discovery_cases-case13009.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 CDC40
 
 leblond_12_ASD_replication_cases-Pintocase5237_3
 aCGH (Agilent 1M)
 
 Paternal
 
 
 RFPL4B,LAMA4
 
 levy_11_ASD_discovery_cases-11416.p1
 
 
 Maternal
 Simplex
 Segregated
 AFG1L
 
 levy_11_ASD_discovery_cases-12212.p1
 
 
 Paternal
 Simplex
 Segregated
 RPS24P12,PDSS2
 
 marshall_08_ASD_discovery_cases-SK0217-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 RFPL4B,LAMA4
 
 o'roak_12_ASD_discovery_cases-case12212.p1
 aCGH, Sanger sequencing
 
 Paternal
 Simplex (quad)
 Unknown
 RPS24P12,PDSS2
 
 pinto_10_ASD_discovery_cases-case13094_1113
 qPCR
 
 De novo
 NA
 NA
 0 genes
 
 pinto_10_ASD_discovery_cases-case5237_3
 Agilent1M
 
 paternal
 Simplex
 NA
 RFPL4B,LAMA4
 
 pinto_10_ASD_discovery_cases-case5510_3
 Agilent1M
 
 maternal
 NA
 NA
 
 
 poultney_13_ASD_discovery_cases-case00HI1481A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 C6orf203
 
 poultney_13_ASD_discovery_cases-case98HI0591B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 C6orf203
 
 poultney_13_ASD_discovery_cases-caseHI0699
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 AMD1
 
 prasad_12_ASD_discovery_cases-case113501L
 
 
 Unknown
 Unknown
 Unknown
 RFPL4B,LAMA4
 
 prasad_12_ASD_discovery_cases-case50681L
 
 
 Unknown
 Unknown
 Unknown
 LACE1
 
 prasad_12_ASD_discovery_cases-case68711
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11013.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11047.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11079.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11086.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11097.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11144.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11189.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11246.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11250.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11263.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11328.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11359.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11400.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11401.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11415.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11421.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11458.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11537.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11587.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11592.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11676.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11698.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11733.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11776.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11793.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11806.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11824.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11827.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11834.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11834.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11855.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11863.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11869.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11878.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11888.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11909.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11922.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11946.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-11977.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12011.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12041.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 AFG1L
 
 sanders_11_ASD_discovery_cases-12093.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12101.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12113.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12139.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12157.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12173.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12194.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12212.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RPS24P12,PDSS2
 
 sanders_11_ASD_discovery_cases-12243.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12315.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12396.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12418.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12429.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12456.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12492.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12507.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12536.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12581.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12594.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12594.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12595.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12619.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12641.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 C6orf203
 
 sanders_11_ASD_discovery_cases-12643.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12652.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12676.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12722.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12827.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12894.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12956.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12969.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-12972.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 BVES-AS1,BVES
 
 sanders_11_ASD_discovery_cases-12984.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P,AFG1L
 
 sanders_11_ASD_discovery_cases-13010.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13016.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13048.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-13057.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13067.p1
 
 
 Both parents
 Simplex (trio)
 NA
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-13076.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-13077.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-13144.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-13153.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-1144P
 
 sanders_11_ASD_discovery_cases-13153.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13304.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 RNU6-1144P
 
 srivastava_21_ASD/ID/EP_discovery_cases-case1
 
 
 De novo
 Multiplex (monozygotic twins)
 Segregated
 GPR6,WASF1
 
 srivastava_21_ASD/ID/EP_discovery_cases-case2
 
 
 De novo
 Multiplex (monozygotic twins)
 Segregated
 GPR6,WASF1
 
 tropeano_13_DD/ASD_discovery_cases-case3
 
 
 Maternal
 
 
 RPL35P3,RN7SKP211,RN7SL47P,RNU6-344P,RNA5SP211,BVES-AS1,POPDC3,PRDM1,BVES,PREP,ATG5,CRYBG1
 
 yin_16_ASD_discovery_cases-case249
 
 
 Unknown
 Unknown
 Unknown
 RNU6-960P,FCF1P5,REV3L-IT1,MFSD4B,REV3L,SLC16A10
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB147560_1007872587
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB276080_1007853614
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB277390_1007875280
 
 
  Unknown
 
 
  CDC40,WASF1
 
engchuan_15_ASD_discovery_controls-controlB324229_1007854374
 
 
  Unknown
 
 
  METTL24,CDC40
 
engchuan_15_ASD_discovery_controls-controlB567421_1007848476
 
 
  Unknown
 
 
  MFSD4B,SLC16A10
 
engchuan_15_ASD_discovery_controls-controlB746547_1007874360
 
 
  Unknown
 
 
  RPL35P3,RN7SKP211,RN7SL47P,RNU6-344P,RNA5SP211,RNU6-527P,RPL21P65,LINC02526,RNU6-117P,MIR587,PRDM1,RTN4IP1,QRSL1,LINC02532,PREP,ATG5,CRYBG1
 
engchuan_15_ASD_discovery_controls-controlB855930_1007853688
 
 
  Unknown
 
 
  SNORA40C,RNU6-1115P,CNN2P9,CDK19,AMD1
 
engchuan_15_ASD_discovery_controls-controlHABC_902567_902567
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902567_902567
 
 
  Unknown
 
 
 
 
kanduri_15_ASD_discovery_controls-control_split1293
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, RFPL4B(dist=265053),MARCKS(dist=1236584)
 
kanduri_15_ASD_discovery_controls-control_split282
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, GPR6(dist=94617),WASF1(dist=12118)
 
nord_11_ASD_discovery_controls-04C28240
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11011.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11013.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11043.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11047.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11057.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11059.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RNU6-897P,HACE1
 
sanders_11_ASD_discovery_controls-11141.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-897P,HACE1
 
sanders_11_ASD_discovery_controls-11148.s1
 
 
  Maternal
  Simplex (quad)
  NA
  METTL24
 
sanders_11_ASD_discovery_controls-11201.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11203.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11203.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11246.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11250.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11282.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11312.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11328.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11357.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11390.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11401.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11415.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11458.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11458.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11499.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11519.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11519.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HACE1
 
sanders_11_ASD_discovery_controls-11557.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11561.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11573.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11629.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11642.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11714.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11720.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11793.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11798.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11827.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11834.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11834.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11888.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11894.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11909.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11911.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11969.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11977.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-11990.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12011.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12036.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12036.s1
 
 
  Both parents
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12113.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12153.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12211.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12272.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12308.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12327.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12351.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12370.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12418.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12507.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12523.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12552.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12581.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12619.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12631.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12652.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12676.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12703.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C6orf203
 
sanders_11_ASD_discovery_controls-12722.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12735.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12794.s1
 
 
  Maternal
  Simplex (quad)
  NA
  WASF1
 
sanders_11_ASD_discovery_controls-12798.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12937.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-12956.s1
 
 
  Unknown
  Simplex (quad)
  NA
  C6orf203
 
sanders_11_ASD_discovery_controls-12984.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-13018.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-13021.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-13104.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13153.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-1144P
 
sanders_11_ASD_discovery_controls-13153.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13193.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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