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22q13.1CNV Type: Deletion-Duplication


Largest CNV size: 437225 bp

Statistics Box:
Number of Reports: 24



Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.
Deletion
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
NA
Duplication
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 26373
 1
 1
 2
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 302000
 0
 1
 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
 164725
 3
 1
 4
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 348528
 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
 499681
 1
 3
 4
 gregory_09_ASD_discovery_cases
 Probands from multiplex autism families
 119
 Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
 
 78.15% Male
 437225
 1
 0
 1
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 18284
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 1164885
 3
 1
 4
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 240705
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 140375
 1
 7
 8
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 275628
 1
 1
 2
 napoli_17_ASD_discovery_cases
 Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
 133
 Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
 Mean, 6.7 3.0 years
 84.96% Male
 153000
 1
 0
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 30000
 1
 0
 1
 newbury_12_ASD/CAS_discovery_cases
 Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
 1
 Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
 14 yrs.
 Male
 91153
 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
 174507
 0
 1
 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
 
 
 46582
 1
 0
 1
 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)
 56926
 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
 33117
 1
 1
 2
 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
 268454
 13
 6
 19
 shen_10b_ASD_discovery_cases
 Father and son from a three-generation Chinese family with ASD and language delay.
 2
 Diagnosis of ASD based upon DSM-IV criteria.
 Range, 12-41 yrs.
 100% Male
 26327
 2
 0
 2
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 17997
 1
 0
 1
 wang_18_TS_discovery_cases
 Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
 789
 Probands diagnosed with Tourette syndrome
 N/A
 80.57% Male
 146864
 1
 0
 1
 xu_08_WAGR/ASD/DD/ID_discovery_cases
 Patients with WAGR syndrome and de novo deletions in the 11p14-p12 region previously detected by FISH
 31
 All 31 patients diagnosed with WAGR syndrome; neurodevelopmental comorbidities within this cohort include intellectual disability, developmental delay, autism, ADHD, seizures, anxiety, obsessive-compulsive behaviors, and speech delay/speech disorder
 Range, 3-46 yrs.
 45.16% Male
 125200
 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
 31144
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_controls
 Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
 584
 Control (unaffected siblings from simplex quad families)
 N/A
 N/A
 384
 1
 0
 1
 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
 46581
 4
 0
 4
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 348528
 0
 0
 0
 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
 gregory_09_ASD_discovery_controls
 Samples from 27 sex-mismatched hybridizations
 54
 Controls
 
 50% Male
 437225
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 7659
 1
 1
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 18970
 2
 3
 5
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 61922
 1
 0
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 175062
 0
 2
 2
 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)
 17890
 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)
 33117
 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.
 
 173337
 10
 5
 15
 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
 31144
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent SurePrint G3)
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 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)
 gregory_09_ASD_discovery_cases
 
 aCGH
  BACs aCGH
 BioDiscovery RSA
 Bluefuse, Nexus
 aCGH
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 FISH
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 aCGH (Agilent 244K)
 napoli_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome 4x180K
 ADM-2
 Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
 RT-PCR
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 newbury_12_ASD/CAS_discovery_cases
  European (Caucasian)
 aCGH
  Agilent 244K
 
 Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
 None
 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
 
 qPCR
 shen_10b_ASD_discovery_cases
  Chinese
 aCGH
  Agilent 244K
 
 DNA Analytics
 
 vaags_11_ASD_discovery_cases
  Canadian
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
 
 
 None
 wang_18_TS_discovery_cases
  N/A
 WES
  Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
 
 CoNIFER
 None
 xu_08_WAGR/ASD/DD/ID_discovery_cases
  N/A
 aCGH
  Agilent 4x44K, custom Agilent array
 
 
 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
  brandler_18_ASD_replication_controls
  N/A
  WGS
  Illumina HiSeq X10
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  None
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  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
  gregory_09_ASD_discovery_controls
 
  aCGH
  BACs aCGH
  BioDiscovery RSA
  Bluefuse, Nexus
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  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
  celestino-soper_11_ASD_discovery_cases-11063
 NA
 M
 ASD
 NA
 NA
 38822233
 38823107
  875
 GRCh38
 Duplication
 No
  celestino-soper_11_ASD_discovery_cases-11550
 NA
 M
 ASD
 NA
 NA
 38963107
 38989480
  26374
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299790
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 CNV locus reported as 22q13.2 in the report
 
 39743755
 40045957
  302203
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14063_1070
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 39042654
 39207379
  164726
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3099_8
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 38959104
 38996475
  37372
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4456_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 38959104
 39014406
  55303
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5523_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 38967825
 39014406
  46582
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si126
 6
 M
 Autism
 ADOS score: 6. Vineland composite score: 65.
 No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 78; Non-verbal IQ, 85.
 40064514
 40413042
  348529
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-11483.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
 37614047
 37974047
  360001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-12224.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
 40047691
 40422307
  374617
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-14440.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
 37504614
 38004295
  499682
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-AU3068301
 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
 37551707
 37604305
  52599
 GRCh38
 Duplication
 Yes
  gregory_09_ASD_discovery_cases-200510671
 NA
 
 ASD
 NA
 NA
 38014034
 38451260
  437227
 GRCh38
 Deletion
 Yes
  iourov_12_ASD/ID/EP_discovery_cases-case23
 4 yrs.
 M
 Developmental delay/intellectual disability
 Facial dysmorphisms, high-arched palate, congenital dislocation of the hip. Karyotype: 1phqh.
 Developmental delay/intellectual disability
 37607870
 37626154
  18285
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001683
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 37721777
 38886664
  1164888
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004443
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 37994092
 38066784
  72693
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004891
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 38951259
 39371142
  419884
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005200
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 38696778
 38898386
  201609
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case12224.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12224. SRS score of 89.
 Full-scale IQ (FSIQ) score of 80.
 40125817
 40366522
  240706
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11178.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 39665497
 39670232
  4736
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11617.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 39399802
 39421971
  22170
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11947.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 40322853
 40463228
  140376
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12224.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 40125817
 40366522
  240706
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12356.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 37931798
 37947463
  15666
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12363.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 37937079
 37947463
  10385
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13783.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 37231230
 37244183
  12954
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13801.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 37937079
 37947463
  10385
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11947.p1
 NA
 M
 ASD
 NA
 NA
 40324312
 40499373
  175062
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-12224.p1
 NA
 M
 ASD
 NA
 NA
 40099432
 40375059
  275628
 GRCh38
 Deletion
 Yes
  napoli_17_ASD_discovery_cases-case27
 N/A
 M
 ASD
 Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
 
 38864289
 39016935
  152647
 GRCh38
 Deletion
 Yes
  nava_13_ASD_discovery_cases-Fam944Proband10738
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 38959104
 38989505
  30402
 GRCh38
 Deletion
 No
  newbury_12_ASD/CAS_discovery_cases-case1
 14 yrs.
 M
 PDD-NOS and CAS
 Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
 
 38898327
 38989480
  91154
 GRCh38
 Duplication
 No
  o'roak_12_ASD_discovery_cases-case11947.p1
 NA
 M
 ASD/Autism
 Case also identified with de novo MDM2 missense/nonsense mutation. No additional clinical info available.
 Low IQ. Non verbal IQ, 33
 40322853
 40497360
  174508
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5523_3
 NA
 F
 ASD
 NA
 NA
 38967825
 39014406
  46582
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case01HI2130A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU079905; NDAR ID NDAR_INVTL336MH0)
 
 37937744
 37951524
  13781
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI3730A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1333302; NDAR ID NDAR_INVXN619JT9)
 
 38964611
 39021536
  56926
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case05HI3777A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1394302; NDAR ID NDAR_INVMY508FTQ)
 
 37937744
 37947465
  9722
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case142068L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 38775159
 38808275
  33117
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case60536L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 36667680
 36673173
  5494
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11052.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 97; verbal IQ, 90
 39035093
 39049549
  14457
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11216.p1
 4.7
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
 37352354
 37353691
  1338
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11249.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ 74
 38900499
 39137365
  236867
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11289.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
 39031931
 39049549
  17619
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11363.p1
 5.9
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
 37352354
 37353691
  1338
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11376.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
 39031931
 39049549
  17619
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11429.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
 39031931
 39049549
  17619
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11432.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
 37352354
 37353691
  1338
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11499.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
 37247524
 37252642
  5119
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11569.p1
 9.1
 F
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
 37247524
 37250252
  2729
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11617.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 27
 39393081
 39424880
  31800
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11653.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 44; verbal IQ, 28
 37352354
 37353691
  1338
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11716.p1
 16.2
 M
 Autism
 NA
 Full-scale IQ, 48.88; non-verbal IQ, 78; verbal IQ, 20
 37352354
 37353691
  1338
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11947.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 28
 40324023
 40497360
  173338
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11959.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 79; verbal IQ, 49
 39047686
 39047691
  6
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12051.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 66; verbal IQ, 63
 40504073
 40507417
  3345
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12102.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
 40032429
 40081426
  48998
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12224.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 78
 40100652
 40369106
  268455
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-12703.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 58; verbal IQ, 61
 38885631
 38891531
  5901
 GRCh38
 Deletion
 No
  shen_10b_ASD_discovery_cases-caseII:5
 41 yrs.
 M
 ASD
 Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
 IQ not tested; significant childhood learning disability
 37689058
 37715385
  26327
 Unknown
 Deletion
 No
  shen_10b_ASD_discovery_cases-caseIII:1
 12 yrs.
 M
 ASD
 Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
 Mental retardation. WISC IQ score of 46.
 37689058
 37715385
  26327
 Unknown
 Deletion
 No
  vaags_11_ASD_discovery_cases-probandF2-003
 3 yrs. 5 mos.
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 38967825
 38985821
  17997
 GRCh38
 Deletion
 No
  wang_18_TS_discovery_cases-case77355072
 N/A
 N/A
 Tourette syndrome
 Tourette syndrome proband from phase 1 cohort; no additional clinical information available
 
 38871251
 39018114
  146864
 GRCh38
 Deletion
 No
  xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF24a
 16 yrs.
 F
 WAGR syndrome and ID
 Obsessive-compulsive
 Intellectual disability
 38864289
 38989480
  125192
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case627
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 39003295
 39034438
  31144
 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
  brandler_18_ASD_replication_controls-controlSSC09807
  N/A
  M
  control
  Control from SSC_phase2 cohort
 
  38698166
  38698549
  384
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB995629_1007855005
  N/A
  N/A
  Control
  No previous psychiatric history
 
  38967825
  39014406
  46582
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900037_900037
  N/A
  N/A
  Control
  No previous psychiatric history
 
  38959104
  38996475
  37372
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900450_900450
  N/A
  N/A
  Control
  No previous psychiatric history
 
  38959104
  38996475
  37372
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900999_900999
  N/A
  N/A
  Control
  No previous psychiatric history
 
  38959104
  38996291
  37188
  GRCh38
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12937.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12937. SRS score of 46.
 
  40358863
  40366522
  7660
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control13992.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13992. SRS score of 45.
 
  38081888
  38087264
  5377
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control12056.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38134987
  38145653
  10667
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12356.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  37932552
  37951522
  18971
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12669.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38057780
  38067789
  10010
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12937.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  40358863
  40366522
  7660
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13927.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  37937079
  37947463
  10385
  GRCh38
  Duplication
  Yes
  kushima_18_ASD/SCZ_discovery_controls-controlCON1210
  36 yrs.
  F
  Control
  This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
 
  40097876
  40159797
  61922
  GRCh38
  Deletion
  N/A
  levy_11_ASD_discovery_controls-11596.s1
  NA
  M
  Control
  NA
  NA
  37279848
  37337154
  57307
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11947.s1
  NA
  M
  Control
  NA
  NA
  40324312
  40499373
  175062
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C29561A
  N/A
  F
  Control
  NIMH Control (NIMH ID 61787)
 
  39031694
  39049583
  17890
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11002.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  38893797
  38900499
  6703
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11010.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  38893797
  38900499
  6703
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11052.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  39035093
  39049549
  14457
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11067.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  37352354
  37353691
  1338
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11117.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  37352354
  37353691
  1338
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11414.s1
  14.8
  F
  Control (matched sibling)
  NA
  NA
  37249190
  37250252
  1063
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11432.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  37352354
  37353691
  1338
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11947.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  40324023
  40497360
  173338
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11959.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  39047686
  39047691
  6
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12056.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  38132951
  38148291
  15341
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12335.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  37249190
  37251532
  2343
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12347.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  37566153
  37568898
  2746
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12669.s1
  13.2
  M
  Control (matched sibling)
  NA
  NA
  38051437
  38067961
  16525
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12703.s1
  15.3
  F
  Control (matched sibling)
  NA
  NA
  38885631
  38891531
  5901
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12937.s1
  18.9
  M
  Control (matched sibling)
  NA
  NA
  40357230
  40375280
  18051
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 celestino-soper_11_ASD_discovery_cases-11063
 
 
 Unknown
 Simplex
 NA
 NPTXR
 
 celestino-soper_11_ASD_discovery_cases-11550
 Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent SurePrint G3)
 
 Inherited
 Simplex
 NA
 APOBEC3B,APOBEC3A
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299790
 
 
 De novo
 
 
 RN7SKP210,UQCRFS1P1,GRAP2,FAM83F,TNRC6B,ENTHD1
 
 engchuan_15_ASD_discovery_cases-case14063_1070
 
 
 Unknown
 
 
 APOBEC3G,APOBEC3H,COX5BP7,FUNDC2P4,APOBEC3F,CBX7
 
 engchuan_15_ASD_discovery_cases-case3099_8
 
 
 Unknown
 
 
 APOBEC3B,APOBEC3A,APOBEC3B-AS1
 
 engchuan_15_ASD_discovery_cases-case4456_1
 
 
 Unknown
 
 
 APOBEC3B,APOBEC3C,APOBEC3A,APOBEC3B-AS1
 
 engchuan_15_ASD_discovery_cases-case5523_3
 
 
 Unknown
 
 
 APOBEC3B,APOBEC3C,APOBEC3A,APOBEC3B-AS1
 
 girirajan_11_ASD_discovery_cases-Si126
 
 
 De novo
 Simplex
 
 RPL7P52,SGSM3,TNRC6B,ADSL,MRTFA
 
 girirajan_13a_ASD_discovery_cases-11483.p1
 
 
 Unknown
 Simplex
 Unknown
 RN7SL385P,LGALS1,H1F0,GALR3,MIR658,MIR659,RNU6-900P,MIR6820,SH3BP1,PDXP,NOL12,GCAT,ANKRD54,MICALL1,C22orf23,SOX10,GGA1,EIF3L,POLR2F,TRIOBP
 
 girirajan_13a_ASD_discovery_cases-12224.p1
 aCGH (NimbleGen 135K array)
 
 De novo
 Simplex
 Possibly segregated
 RPL7P52,SGSM3,TNRC6B,ADSL,MRTFA
 
 girirajan_13a_ASD_discovery_cases-14440.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 LGALS2,RN7SL385P,LGALS1,H1F0,GALR3,MIR658,MIR659,RNU6-900P,MIR6820,MIR4534,CARD10,CDC42EP1,SH3BP1,PDXP,NOL12,GCAT,ANKRD54,MICALL1,C22orf23,SOX10,GGA1,EIF3L,POLR2F,TRIOBP
 
 girirajan_13a_ASD_discovery_cases-AU3068301
 aCGH (NimbleGen 135K array)
 
 Paternal
 Multiplex
 Unknown
 LGALS2,CDC42EP1
 
 gregory_09_ASD_discovery_cases-200510671
 aCGH dye swap
 
 Unknown
 NA
 NA
 SLC16A8,RN7SL704P,PICK1,BAIAP2L2,MAFF,CSNK1E,TPTEP2-CSNK1E,TPTEP2,KCNJ4,POLR2F,PLA2G6,TMEM184B
 
 iourov_12_ASD/ID/EP_discovery_cases-case23
 FISH
 
 Unknown
 Unknown
 Unknown
 GGA1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001683
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 H1F0,GALR3,MIR658,MIR659,RNU6-900P,MIR6820,MIR4534,SLC16A8,RN7SL704P,RPS29P31,PRDX3P1,GCAT,ANKRD54,MICALL1,C22orf23,SOX10,PICK1,BAIAP2L2,MAFF,CSNK1E,TPTEP2-CSNK1E,TPTEP2,KCNJ4,KDELR3,DDX17,FAM227A,TOMM22,JOSD1,GTPBP1,SUN2,DNAL4,NPTXR,CBX6,EIF3L,POLR2F,PLA2G6,TMEM184B,DMC1,CBY1,TRIOBP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004443
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 PICK1,POLR2F
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004891
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 APOBEC3B,APOBEC3C,APOBEC3G,APOBEC3H,COX5BP7,FUNDC2P4,RPL3,SNORD83B,SNORD83A,SNORD43,APOBEC3A,APOBEC3B-AS1,APOBEC3D,APOBEC3F,CBX7,PDGFB,SYNGR1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005200
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 PRDX3P1,JOSD1,GTPBP1,SUN2,DNAL4,NPTXR,CBX6
 
 krumm_13_ASD_discovery_cases-case12224.p1
 Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
 
 De novo
 Simplex
 Segregated
 TNRC6B,ADSL
 
 krumm_15_ASD_discovery_cases-case11178.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 CACNA1I
 
 krumm_15_ASD_discovery_cases-case11617.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 TAB1
 
 krumm_15_ASD_discovery_cases-case11947.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SGSM3,TNRC6B,ADSL,MRTFA
 
 krumm_15_ASD_discovery_cases-case12224.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 TNRC6B,ADSL
 
 krumm_15_ASD_discovery_cases-case12356.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MICALL1,C22orf23
 
 krumm_15_ASD_discovery_cases-case12363.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 MICALL1,C22orf23
 
 krumm_15_ASD_discovery_cases-case13783.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 RAC2
 
 krumm_15_ASD_discovery_cases-case13801.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 MICALL1,C22orf23
 
 levy_11_ASD_discovery_cases-11947.p1
 
 
 Paternal
 Simplex
 Not segregated
 SGSM3,TNRC6B,ADSL,MRTFA
 
 levy_11_ASD_discovery_cases-12224.p1
 aCGH (Agilent 244K)
 
 De novo
 Simplex
 Segregated
 RPL7P52,SGSM3,TNRC6B,ADSL
 
 napoli_17_ASD_discovery_cases-case27
 RT-PCR
 
 Paternal
 
 
 APOBEC3B,APOBEC3C,CBX6,APOBEC3A,APOBEC3B-AS1
 
 nava_13_ASD_discovery_cases-Fam944Proband10738
 
 
 Paternal
 Simplex
 Unknown
 APOBEC3B,APOBEC3A
 
 newbury_12_ASD/CAS_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown (common in DGV)
 APOBEC3B,APOBEC3A
 
 o'roak_12_ASD_discovery_cases-case11947.p1
 aCGH, Sanger sequencing
 
 Paternal
 Simplex (quad)
 Unknown
 SGSM3,TNRC6B,ADSL,MRTFA
 
 pinto_10_ASD_discovery_cases-case5523_3
 Agilent1M
 
 maternal
 NA
 NA
 APOBEC3B,APOBEC3C,APOBEC3A,APOBEC3B-AS1
 
 poultney_13_ASD_discovery_cases-case01HI2130A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MICALL1,C22orf23
 
 poultney_13_ASD_discovery_cases-case05HI3730A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 APOBEC3B,APOBEC3C,APOBEC3A,APOBEC3B-AS1,APOBEC3D
 
 poultney_13_ASD_discovery_cases-case05HI3777A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MICALL1,C22orf23
 
 prasad_12_ASD_discovery_cases-case142068L
 
 
 Unknown
 Unknown
 Unknown
 TNRC6B
 
 prasad_12_ASD_discovery_cases-case60536L
 
 
 Unknown
 Unknown
 Unknown
 MICALL1,C22orf23
 
 sanders_11_ASD_discovery_cases-11052.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 APOBEC3F
 
 sanders_11_ASD_discovery_cases-11216.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 ELFN2
 
 sanders_11_ASD_discovery_cases-11249.p1
 
 
 Paternal
 Simplex (trio)
 NA
 APOBEC3B,APOBEC3C,APOBEC3G,APOBEC3H,COX5BP7,APOBEC3A,APOBEC3B-AS1,APOBEC3D,APOBEC3F,CBX7
 
 sanders_11_ASD_discovery_cases-11289.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 APOBEC3D,APOBEC3F
 
 sanders_11_ASD_discovery_cases-11363.p1
 
 
 Unknown
 Simplex (trio)
 NA
 ELFN2
 
 sanders_11_ASD_discovery_cases-11376.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 APOBEC3D,APOBEC3F
 
 sanders_11_ASD_discovery_cases-11429.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 APOBEC3D,APOBEC3F
 
 sanders_11_ASD_discovery_cases-11432.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ELFN2
 
 sanders_11_ASD_discovery_cases-11499.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11569.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11617.p1
 
 
 Paternal
 Simplex (trio)
 NA
 TAB1
 
 sanders_11_ASD_discovery_cases-11653.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ELFN2
 
 sanders_11_ASD_discovery_cases-11716.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ELFN2
 
 sanders_11_ASD_discovery_cases-11947.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SGSM3,TNRC6B,ADSL,MRTFA
 
 sanders_11_ASD_discovery_cases-11959.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 APOBEC3F
 
 sanders_11_ASD_discovery_cases-12051.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MRTFA
 
 sanders_11_ASD_discovery_cases-12102.p1
 
 
 Unknown
 Simplex (trio)
 NA
 FAM83F,TNRC6B
 
 sanders_11_ASD_discovery_cases-12224.p1
 qPCR
 
 De Novo
 Simplex (quad-proband matched)
 Segregated
 RPL7P52,TNRC6B,ADSL
 
 sanders_11_ASD_discovery_cases-12703.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 shen_10b_ASD_discovery_cases-caseII:5
 
 
 Paternal
 Simplex
 Unknown
 APOBEC3A,APOBEC3B
 
 shen_10b_ASD_discovery_cases-caseIII:1
 
 Paternal
 Paternal
 Simplex (ASD), Multiplex (language delay)
 Not segregated
 APOBEC3A,APOBEC3B
 
 vaags_11_ASD_discovery_cases-probandF2-003
 
 
 Unknown
 Multiplex
 Possibly segregated (present in affected sister, status in unaffected brother unknown)
 APOBEC3B,APOBEC3A
 
 wang_18_TS_discovery_cases-case77355072
 CNV validation not attempted
 
 De novo
 
 
 APOBEC3B,APOBEC3C,CBX6,APOBEC3A,APOBEC3B-AS1
 
 xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF24a
 
 
 Unknown
 
 Unknown
 APOBEC3B,CBX6,APOBEC3A
 
 yin_16_ASD_discovery_cases-case627
 
 
 Unknown
 Unknown
 Unknown
 APOBEC3C,APOBEC3D
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC09807
  No validation step reported
 
  Maternal
 
 
  JOSD1
 
engchuan_15_ASD_discovery_controls-controlB995629_1007855005
 
 
  Unknown
 
 
  APOBEC3B,APOBEC3C,APOBEC3A,APOBEC3B-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_900037_900037
 
 
  Unknown
 
 
  APOBEC3B,APOBEC3A,APOBEC3B-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_900450_900450
 
 
  Unknown
 
 
  APOBEC3B,APOBEC3A,APOBEC3B-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_900999_900999
 
 
  Unknown
 
 
  APOBEC3B,APOBEC3A,APOBEC3B-AS1
 
krumm_13_ASD_discovery_controls-control12937.s1
 
 
  Paternal
  Simplex
 
  ADSL
 
krumm_13_ASD_discovery_controls-control13992.s1
 
 
  Paternal
  Simplex
 
  SLC16A8,BAIAP2L2
 
krumm_15_ASD_discovery_controls-control12056.s1
  Illumina 1MDuo
 
  Paternal
 
 
  PLA2G6
 
krumm_15_ASD_discovery_controls-control12356.s1
  Illumina 1MDuo
 
  Paternal
 
 
  MICALL1,C22orf23
 
krumm_15_ASD_discovery_controls-control12669.s1
  Illumina 1MDuo
 
  Paternal
 
 
  PICK1
 
krumm_15_ASD_discovery_controls-control12937.s1
  Illumina 1MDuo
 
  Paternal
 
 
  ADSL
 
krumm_15_ASD_discovery_controls-control13927.s1
  Omni2.5-4v1
 
  Paternal
 
 
  MICALL1,C22orf23
 
kushima_18_ASD/SCZ_discovery_controls-controlCON1210
  While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
  Unknown
 
 
  RPL7P52,TNRC6B
 
levy_11_ASD_discovery_controls-11596.s1
 
 
  Maternal
  Simplex
  NA
  CYTH4
 
levy_11_ASD_discovery_controls-11947.s1
 
 
  Paternal
  Simplex
  NA
  SGSM3,TNRC6B,ADSL,MRTFA
 
poultney_13_ASD_discovery_controls-control04C29561A
 
 
  Unknown
 
 
  APOBEC3D,APOBEC3F
 
sanders_11_ASD_discovery_controls-11002.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11010.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11052.s1
 
 
  Paternal
  Simplex (quad)
  NA
  APOBEC3F
 
sanders_11_ASD_discovery_controls-11067.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ELFN2
 
sanders_11_ASD_discovery_controls-11117.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ELFN2
 
sanders_11_ASD_discovery_controls-11414.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11432.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ELFN2
 
sanders_11_ASD_discovery_controls-11947.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SGSM3,TNRC6B,ADSL,MRTFA
 
sanders_11_ASD_discovery_controls-11959.s1
 
 
  Paternal
  Simplex (quad)
  NA
  APOBEC3F
 
sanders_11_ASD_discovery_controls-12056.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PLA2G6
 
sanders_11_ASD_discovery_controls-12335.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12347.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CDC42EP1
 
sanders_11_ASD_discovery_controls-12669.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PICK1
 
sanders_11_ASD_discovery_controls-12703.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12937.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SGSM3,ADSL
 

No Animal Model Data Available
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