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22q12.3CNV Type: Deletion-Duplication


Largest CNV size: 649150 bp

Statistics Box:
Number of Reports: 22



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Gene-network analysis identifies susceptibility genes related to glycobiology in autism.
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...
Deletion-Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Frequency and Complexity of De Novo Structural Mutation in Autism.
Deletion
22q12.3 microduplication overlapping the LARGE gene as a male-only affected loci responsible for increasing the risk of autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
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.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_16_ASD_discovery_cases
 ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)
 71
 Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.
 N/A
 N/A
 128195
 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
 128195
 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
 639997
 2
 5
 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
 219274
 0
 1
 1
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 94356
 1
 1
 2
 griswold_12_ASD_discovery_cases
 Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
 813
 Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
 Range, 3-21 yrs.
 NA
 430784
 0
 1
 1
 huang_17_ASD_discovery_cases
 First child of non-consanguineous Chinese parents with no family history of congenital malformations
 1
 Case diagnosed with ASD
 9 years
 Male
 575000
 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
 840626
 5
 4
 9
 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
 205858
 1
 3
 4
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 211080
 2
 6
 8
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 204174
 0
 1
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 164000
 0
 1
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 108191
 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
 250843
 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
 
 
 66848
 0
 1
 1
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 67864
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 259122
 3
 3
 6
 qiao_12_ASD/ID_discovery_cases
 Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
 52
 ASD and/or ID (intellectual disability)
 NA
 NA
 601000
 0
 1
 1
 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
 204071
 12
 4
 16
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 2010000
 1
 0
 1
 van_der_zwaag_09_ASD_discovery_cases
 Samples and phenotypic data from ASD patients, Dept. of Child & Adolescent Psychiatry, UMC Utrcht
 105
 53 cases diagnosed with non-complex autism, 52 diagnosed with complex autism
 
 
 649150
 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
 342268
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 726511
 0
 8
 8
 griswold_12_ASD_discovery_controls
 Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
 592
 Control
 Range, preterm-21 yrs.
 NA
 430784
 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
 7735
 1
 0
 1
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 29333
 1
 1
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 208692
 1
 3
 4
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 86156
 0
 1
 1
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 0
 0
 0
 0
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 259122
 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.
 
 84375
 10
 2
 12
 van_der_zwaag_09_ASD_discovery_controls
 Ethnically matched, unrelated, healthy volunteers recruited by Dept. of Neurology, UMC Utrecht
 267
 Controls
 
 
 0
 0
 0
 0
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 342268
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_16_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq
 Lumpy, ForestSV
 SVtyper, gtCNV
 Solid phase hybridization (Illumina 2.5M)
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 Yes
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 griswold_12_ASD_discovery_cases
  Range of self-reported ethnicities (specifics NA)
 Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
 Penn CNV, QuantiSNP
 BeadStudio
 qPCR
 huang_17_ASD_discovery_cases
  Chinese
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS v.2.1
 FISH, qPCR
 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
 
 
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 o'roak_12_ASD_discovery_cases
  NA
 WES
  NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
 HMM
 mrsFAST aligner
 aCGH, Sanger sequencing
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 qiao_12_ASD/ID_discovery_cases
  Canadian
 Array SNP
  Affymetrix 2.7M
 
 Affymetrix ChAS v.1.1
 QMPSF
 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
 
 
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None
 van_der_zwaag_09_ASD_discovery_cases
  Dutch
 Solid phase hybridization
  HumanHap300 Beadchip
 
 BeadStudio genotyping V2.3.41
 qPCR
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  griswold_12_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
  Penn CNV, QuantiSNP
  BeadStudio
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  van_der_zwaag_09_ASD_discovery_controls
  Dutch
  Solid phase hybridization
  HumanHap300 Beadchip
 
  BeadStudio genotyping V2.3.41
 
  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
  brandler_16_ASD_discovery_cases_caseREACH000001
 N/A
 M
 ASD
 Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician
 
 36573534
 36701731
  128198
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_discovery_cases-caseREACH000001
 N/A
 M
 ASD
 Case from REACH cohort
 
 36573534
 36701731
  128198
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case20068_1324001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 33620140
 33681106
  60967
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2294_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 34085786
 34429797
  344012
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3607_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 33037776
 33677772
  639997
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5042_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32253444
 32320291
  66848
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6053_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 31969986
 32067888
  97903
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6240_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 33071071
 33411650
  340580
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8630_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 33620140
 33688001
  67862
 GRCh38
 Deletion
 Yes
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000021
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S27
 N/A
 33835852
 34055125
  219274
 GRCh38
 Duplication
 No
  gai_11_ASD_replication_cases-AU017604
 
 
 Autism
 
 
 32522621
 32549939
  27319
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU018010
 
 
 Autism
 
 
 31333307
 31427662
  94356
 Unknown
 Duplication
 No
  griswold_12_ASD_discovery_cases-case39377
 NA
 NA
 ASD/autism
 NA
 NA
 32773989
 33204773
  430785
 GRCh38
 Duplication
 Yes
  huang_17_ASD_discovery_cases-case1
 9 yrs.
 M
 ASD
 Birth/neonatal history: normal delivery, birth weight 3.2 kg. Developmental milestones: social deficits and communication difficulties, stereotyped/repetitive behaviors and interests, and sensory issues noted at 30 months of age; significant motor delay (walking at age of 4 years); delayed speech and language development. Motor and musculoskeletal evaluation: tapering fingers, camptodactyly. Behavioral/psychiatric evaluation: case diagnosed with ASD; behavior characterized by frequent mood swings and difficulties obeying rules. Brain imaging: brain MRI at age of 7 years detected small brain size, focal radial distribution of defects on the front parts of the two frontal lobes, the right side of the Brota area and the left side of the hippocampus. Dysmorphic features: long face, periorbital fullness, smooth philtrum, thin upper lip vermillion. Growth parameters: microcephaly (first noted at age of 30 months). Family history: first child of non-consanguineous parents; healthy younger sister; pregnancies of two male fetuses were terminated due to fetal brain malformations detected by ultrasound and abnormal CMA results (22q12.3 microduplication); no family history of congenital malformations; healthy maternal aunt and healthy maternal grandmother are also carriers of the 22q12.3 microduplication.
 
 33755468
 34330819
  575352
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001774
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 33380871
 33754201
  373331
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001813
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 33754145
 33786313
  32169
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001925
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 33757753
 33862859
  105107
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001971
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 33757753
 33862859
  105107
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002135
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 36246060
 36313181
  67122
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002136
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 36246060
 36313181
  67122
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002364
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 35753347
 36593973
  840627
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004528
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 32950725
 33413352
  462628
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004667
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 32940883
 33084286
  143404
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case11247.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11247. SRS score of 87.
 Full-scale IQ (FSIQ) score of 128.
 36305929
 36511786
  205858
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case11364.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11364. SRS score of 72.
 Full-scale IQ (FSIQ) score of 106.
 35317876
 35346972
  29097
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12810.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12810. SRS score of 90.
 Full-scale IQ (FSIQ) score of 63.
 32149752
 32255329
  105578
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case14011.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 14011. SRS score of 90.
 Full-scale IQ (FSIQ) score of 53.
 32392239
 32398100
  5862
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11247.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 36306413
 36512602
  206190
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11364.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 35317876
 35347209
  29334
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12478.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 36201699
 36316669
  114971
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12810.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32149752
 32255329
  105578
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13785.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 35546809
 35627959
  81151
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14011.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32392239
 32398100
  5862
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14128.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32149752
 32360832
  211081
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14170.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32392239
 32398100
  5862
 GRCh38
 Deletion
 Yes
  levy_11_ASD_discovery_cases-11247.p1
 NA
 M
 ASD
 NA
 NA
 36311972
 36516143
  204172
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown127
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 36769024
 36932868
  163845
 GRCh38
 Duplication
 No
  nord_11_ASD_discovery_cases-258-1
 
 
 ASD
 
 
 32651397
 32759587
  108191
 Unknown
 Duplication
 No
  o'roak_12_ASD_discovery_cases-case12810.p1
 NA
 M
 ASD/Autism
 No additional clinical info available.
 Low IQ. Non verbal IQ, 58
 32109989
 32360832
  250844
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5042_4
 NA
 M
 ASD
 NA
 NA
 32253444
 32320291
  66848
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case8630_201
 13 yrs.
 M
 ASD
 Autism on ADI-R and ADOS, regression at 16 mo, language delay (first phrases 48 mo); no dysmorphic features, no epilepsy. Family history: both parents unaffected; no siblings; cousin with ASD.
 Average IQ (VIQ 80, PIQ 101, FSIQ 89), based on WASI at 13 y
 33620140
 33688001
  67862
 GRCh38
 Deletion (mosaic)
 Yes
  prasad_12_ASD_discovery_cases-case100573L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 35503244
 35510336
  7093
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case100676L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 34771812
 34807415
  35604
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case146448L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 31853130
 32112251
  259122
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case60560L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 30973228
 31050606
  77379
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case82503
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 32886534
 32908741
  22208
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-caseL879
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 35548787
 35575577
  26791
 Unknown
 Duplication
 No
  qiao_12_ASD_discovery_cases-case10-12A
 NA
 NA
 ASD and/or ID
 NA
 NA
 32810718
 33411998
  601000
 Unknown
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11041.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
 36523296
 36526158
  2863
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11247.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
 36306056
 36510126
  204071
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11291.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 99
 33569511
 33580012
  10502
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11299.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 104; verbal IQ, 87
 33063145
 33073298
  10154
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11364.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 106; verbal IQ, 104
 35315105
 35352215
  37111
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11372.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 99
 33776601
 33807509
  30909
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11800.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
 33700149
 33708458
  8310
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12150.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
 33063145
 33073298
  10154
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12235.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
 31842142
 31853853
  11712
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12330.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
 34406578
 34410843
  4266
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12478.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
 36220089
 36316516
  96428
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12613.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 79
 33063145
 33075551
  12407
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12810.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 58; verbal IQ, 77
 32134269
 32307085
  172817
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13013.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
 33798758
 33825972
  27215
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13018.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
 34161061
 34184855
  23795
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 31842142
 31844474
  2333
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case52
 
 M
 DD/ID
 Trigonocephaly, microretrognathia, bilateral sensorineural hearing impairment, skeletal abnormalities, myelination defects, and ataxia
 
 36116886
 38131679
  2014794
 GRCh38
 Deletion
 No
  van_der_zwaag_09_ASD_discovery_cases-subject138-003
 NA
 M
 Non-complex autism
 NA
 NA
 31759390
 32408541
  649150
 Unknown
 Duplication
 Yes
  yin_16_ASD_discovery_cases-case626
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 33353290
 33695557
  342268
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB401883_1007874319
  N/A
  N/A
  Control
  No previous psychiatric history
 
  33218541
  33511978
  293438
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB428806_1007853319
  N/A
  N/A
  Control
  No previous psychiatric history
 
  36220089
  36317486
  97398
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB546105_1007840953
  N/A
  N/A
  Control
  No previous psychiatric history
 
  31962601
  32067888
  105288
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB920164_1007874672
  N/A
  N/A
  Control
  No previous psychiatric history
 
  33132724
  33265778
  133055
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB929802_1007851308
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35260247
  35345870
  85624
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB994781_1007855007
  N/A
  N/A
  Control
  No previous psychiatric history
 
  33874580
  34601087
  726508
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900285_900285
  N/A
  N/A
  Control
  No previous psychiatric history
 
  33932752
  34032835
  100084
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900348_900348
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32614771
  32701676
  86906
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1532
  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
 
  32738182
  32745916
  7735
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11364.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11364. SRS score of 40.
 
  35317876
  35347209
  29334
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control14011.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 14011. SRS score of 36.
 
  32392239
  32398100
  5862
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11364.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  35317876
  35347209
  29334
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12091.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32043281
  32068600
  25320
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14011.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32392239
  32398100
  5862
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14128.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32149752
  32358444
  208693
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11568.s1
  NA
  F
  Control
  NA
  NA
  36000797
  36086952
  86156
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11074.s1
  7.3
  M
  Control (matched sibling)
  NA
  NA
  33060104
  33073298
  13195
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11158.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  36175331
  36178719
  3389
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11291.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  33567804
  33580012
  12209
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11299.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  33063145
  33073298
  10154
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11364.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  35315105
  35342495
  27391
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11568.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  36000458
  36084833
  84376
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12056.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  33063145
  33073298
  10154
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12060.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  34147521
  34153682
  6162
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12235.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  31842142
  31853853
  11712
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13018.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  34161061
  34184855
  23795
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13226.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  36803903
  36856576
  52674
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13296.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  31842142
  31844474
  2333
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_16_ASD_discovery_cases_caseREACH000001
 Solid phase hybridization (Illumina 2.5M)
 
 De novo
 Unknown
 Possibly segregated
 CACNG2
 
 brandler_18_ASD_discovery_cases-caseREACH000001
 SNP VCF
 
 De novo
 
 
 CACNG2
 
 engchuan_15_ASD_discovery_cases-case20068_1324001
 
 
 Unknown
 
 
 LARGE1
 
 engchuan_15_ASD_discovery_cases-case2294_1
 
 
 Unknown
 
 
 LINC01643
 
 engchuan_15_ASD_discovery_cases-case3607_3
 
 
 Unknown
 
 
 MIR4764,LINC01640,SYN3,LARGE1
 
 engchuan_15_ASD_discovery_cases-case5042_4
 
 
 Unknown
 
 
 CPSF1P1,SLC5A4-AS1,SLC5A4
 
 engchuan_15_ASD_discovery_cases-case6053_3
 
 
 Unknown
 
 
 LINC02558,RN7SL305P,SLC5A1
 
 engchuan_15_ASD_discovery_cases-case6240_4
 
 
 Unknown
 
 
 LINC01640,LARGE1
 
 engchuan_15_ASD_discovery_cases-case8630_201
 
 
 De novo
 
 
 LARGE1
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000021
 
 
 De novo
 Unknown
 Unknown
 LINC01643,LARGE1
 
 gai_11_ASD_replication_cases-AU017604
 
 
 Inherited
 
 
 LARGE (intronic)
 
 gai_11_ASD_replication_cases-AU018010
 
 
 Inherited
 
 
 SYN3 (intronic)
 
 griswold_12_ASD_discovery_cases-case39377
 qPCR
 
 Paternal
 Simplex
 Segregated
 TIMP3,LINC01640,SYN3,LARGE1
 
 huang_17_ASD_discovery_cases-case1
 FISH, qPCR
 
 Maternal
 Multiplex
 Unknown (possible gender-specific segregation of CNV with disease)
 LINC01643,LARGE1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001774
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 MIR4764,SNORA50B,LARGE-IT1,LARGE-AS1,LARGE1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001813
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 LARGE1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001925
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LARGE1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001971
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LARGE1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002135
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR6819,APOL1,MYH9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002136
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR6819,APOL1,MYH9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002364
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 MTCO1P20,MTCO2P20,MTATP6P20,MTCO3P20,MTND1P10,APOL2,MIR6819,NDUFA9P1,APOL3,APOL4,APOL1,RPS15AP38,TXN2,FOXRED2,EIF3D,RBFOX2,MTCYBP34,MYH9,CACNG2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004528
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC01640,SYN3,LARGE1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004667
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SYN3
 
 krumm_13_ASD_discovery_cases-case11247.p1
 
 
 Paternal
 Simplex
 Segregated
 RPS15AP38,TXN2,FOXRED2,EIF3D,MYH9
 
 krumm_13_ASD_discovery_cases-case11364.p1
 
 
 Maternal
 Simplex
 Not segregated
 MIR3909,MIR6069,TOM1
 
 krumm_13_ASD_discovery_cases-case12810.p1
 Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
 Paternal
 Simplex
 Segregated
 C22orf42,IGLCOR22-1,RFPL2,SLC5A4-AS1,SLC5A4
 
 krumm_13_ASD_discovery_cases-case14011.p1
 
 
 Paternal
 Simplex
 Not segregated
 RTCB
 
 krumm_15_ASD_discovery_cases-case11247.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 RPS15AP38,TXN2,FOXRED2,EIF3D,MYH9
 
 krumm_15_ASD_discovery_cases-case11364.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MIR3909,MIR6069,TOM1
 
 krumm_15_ASD_discovery_cases-case12478.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 APOL2,MIR6819,APOL4,APOL1,MYH9
 
 krumm_15_ASD_discovery_cases-case12810.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 C22orf42,IGLCOR22-1,RFPL2,SLC5A4-AS1,SLC5A4
 
 krumm_15_ASD_discovery_cases-case13785.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 RASD2,MB
 
 krumm_15_ASD_discovery_cases-case14011.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 RTCB
 
 krumm_15_ASD_discovery_cases-case14128.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 C22orf42,IGLCOR22-1,CPSF1P1,IGLCOR22-2,RFPL2,RFPL3,SLC5A4-AS1,SLC5A4,RFPL3S
 
 krumm_15_ASD_discovery_cases-case14170.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 RTCB
 
 levy_11_ASD_discovery_cases-11247.p1
 
 
 Paternal
 Simplex
 Segregated
 RPS15AP38,TXN2,FOXRED2,EIF3D,MYH9
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown127
 
 
 Paternal
 Unknown
 Unknown
 IFT27,PVALB,NCF4-AS1,NCF4,CSF2RB
 
 nord_11_ASD_discovery_cases-258-1
 
 
 Maternal
 
 
 0 genes
 
 o'roak_12_ASD_discovery_cases-case12810.p1
 aCGH, Sanger sequencing
 
 Paternal
 Simplex (quad)
 Unknown
 AP1B1P2,C22orf42,IGLCOR22-1,CPSF1P1,IGLCOR22-2,AP1B1P1,RFPL2,RFPL3,SLC5A1,SLC5A4-AS1,SLC5A4,RFPL3S
 
 pinto_10_ASD_discovery_cases-case5042_4
 Agilent1M
 
 maternal
 NA
 NA
 CPSF1P1,SLC5A4-AS1,SLC5A4
 
 pinto_14_ASD_discovery_cases2-case8630_201
 qPCR
 
 De novo
 Extended multiplex (cousin with ASD)
 Possibly segregated (no siblings)
 LARGE1
 
 prasad_12_ASD_discovery_cases-case100573L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case100676L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case146448L
 
 
 Unknown
 Unknown
 Unknown
 LARGE
 
 prasad_12_ASD_discovery_cases-case60560L
 
 
 Unknown
 Unknown
 Unknown
 SLC5A4
 
 prasad_12_ASD_discovery_cases-case82503
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-caseL879
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 qiao_12_ASD_discovery_cases-case10-12A
 QMPSF
 
 Maternal
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11041.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 EIF3D
 
 sanders_11_ASD_discovery_cases-11247.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 RPS15AP38,TXN2,FOXRED2,MYH9
 
 sanders_11_ASD_discovery_cases-11291.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LARGE1
 
 sanders_11_ASD_discovery_cases-11299.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11364.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MIR3909,MIR6069,TOM1
 
 sanders_11_ASD_discovery_cases-11372.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LARGE1
 
 sanders_11_ASD_discovery_cases-11800.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 SNORA50B,LARGE1
 
 sanders_11_ASD_discovery_cases-12150.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12235.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 DEPDC5
 
 sanders_11_ASD_discovery_cases-12330.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12478.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 APOL2,MIR6819,APOL1,MYH9
 
 sanders_11_ASD_discovery_cases-12613.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12810.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C22orf42,IGLCOR22-1,CPSF1P1,RFPL2,SLC5A4-AS1,SLC5A4
 
 sanders_11_ASD_discovery_cases-13013.p1
 
 
 Paternal
 Simplex (trio)
 NA
 LARGE1
 
 sanders_11_ASD_discovery_cases-13018.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01643
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DEPDC5
 
 tzetis_12_DD/ID_discovery_cases-case52
 
 
 Unknown
 Unknown
 
 MTCO1P20,MTCO2P20,MTATP6P20,MTCO3P20,MTND1P10,APOL2,MIR6819,CSF2RBP1,LL22NC01-81G9.3,RN7SKP214,LGALS2,RN7SL385P,LGALS1,H1F0,GALR3,MIR658,MIR659,RNU6-900P,MIR6820,MIR4534,SLC16A8,APOL3,APOL4,APOL1,RPS15AP38,TXN2,FOXRED2,EIF3D,IFT27,PVALB,NCF4-AS1,NCF4,CSF2RB,TEX33,TST,MPST,KCTD17,IL2RB,C1QTNF6,SSTR3,RAC2,CYTH4,MFNG,CARD10,CDC42EP1,SH3BP1,PDXP,NOL12,GCAT,ANKRD54,MICALL1,C22orf23,SOX10,PICK1,BAIAP2L2,MTCYBP34,MYH9,TMPRSS6,ELFN2,GGA1,EIF3L,POLR2F,PLA2G6,CACNG2,TRIOBP
 
 van_der_zwaag_09_ASD_discovery_cases-subject138-003
 qPCR
 
 Paternal
 NA
 NA
 SYN3, LARGE
 
 yin_16_ASD_discovery_cases-case626
 
 
 Unknown
 Unknown
 Unknown
 MIR4764,LARGE1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB401883_1007874319
 
 
  Unknown
 
 
  MIR4764,LARGE1
 
engchuan_15_ASD_discovery_controls-controlB428806_1007853319
 
 
  Unknown
 
 
  APOL2,MIR6819,APOL1,MYH9
 
engchuan_15_ASD_discovery_controls-controlB546105_1007840953
 
 
  Unknown
 
 
  LINC02558,RN7SL305P,SLC5A1
 
engchuan_15_ASD_discovery_controls-controlB920164_1007874672
 
 
  Unknown
 
 
  LARGE1
 
engchuan_15_ASD_discovery_controls-controlB929802_1007851308
 
 
  Unknown
 
 
  MIR3909,MIR6069,TOM1,HMGXB4
 
engchuan_15_ASD_discovery_controls-controlB994781_1007855007
 
 
  Unknown
 
 
  LINC01643,LARGE1
 
engchuan_15_ASD_discovery_controls-controlHABC_900285_900285
 
 
  Unknown
 
 
  LINC01643
 
engchuan_15_ASD_discovery_controls-controlHABC_900348_900348
 
 
  Unknown
 
 
  RNA5SP497,SYN3
 
kanduri_15_ASD_discovery_controls-control_split1532
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, SLC5A4(dist=86864),RFPL3(dist=4956)
 
krumm_13_ASD_discovery_controls-control11364.s1
 
 
  Maternal
  Simplex
 
  MIR3909,MIR6069,TOM1
 
krumm_13_ASD_discovery_controls-control14011.s1
 
 
  Paternal
  Simplex
 
  RTCB
 
krumm_15_ASD_discovery_controls-control11364.s1
  Illumina 1M
 
  Maternal
 
 
  MIR3909,MIR6069,TOM1
 
krumm_15_ASD_discovery_controls-control12091.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SLC5A1
 
krumm_15_ASD_discovery_controls-control14011.s1
  Omni2.5-4v1
 
  Paternal
 
 
  RTCB
 
krumm_15_ASD_discovery_controls-control14128.s1
  Omni2.5-4v1
 
  Paternal
 
 
  C22orf42,IGLCOR22-1,CPSF1P1,IGLCOR22-2,RFPL2,RFPL3,SLC5A4-AS1,SLC5A4
 
levy_11_ASD_discovery_controls-11568.s1
 
 
  Paternal
  Simplex
  NA
  RBFOX2
 
sanders_11_ASD_discovery_controls-11074.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11158.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MTCO3P20,MTND1P10,MTCYBP34
 
sanders_11_ASD_discovery_controls-11291.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LARGE1
 
sanders_11_ASD_discovery_controls-11299.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11364.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR3909,MIR6069,TOM1
 
sanders_11_ASD_discovery_controls-11568.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBFOX2
 
sanders_11_ASD_discovery_controls-12056.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12060.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01643
 
sanders_11_ASD_discovery_controls-12235.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DEPDC5
 
sanders_11_ASD_discovery_controls-13018.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01643
 
sanders_11_ASD_discovery_controls-13226.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PVALB,NCF4-AS1
 
sanders_11_ASD_discovery_controls-13296.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DEPDC5
 

No Animal Model Data Available
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