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5q11.2CNV Type: Deletion-Duplication


Largest CNV size: 99015 bp

Statistics Box:
Number of Reports: 14


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 beunders_13_DD/ID/ASD_discovery_cases
 Individuals from ten diagnostic centers in the Netherlands, Belgium, Great Britian, the United States, and Canada
 49684
 Intellectual disability and/or mulitple congenital anomalies
 NA
 NA
 108813
 0
 1
 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
 973
 1
 0
 1
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 304
 1
 0
 1
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 171
 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
 183082
 1
 3
 4
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 75990
 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
 3819908
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 16600
 0
 3
 3
 lesca_12_EP_discovery_cases
 Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
 61
 Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
 Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
 61% Male
 174000
 1
 0
 1
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 34436
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 88056
 0
 1
 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
 68650
 1
 2
 3
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 99015
 20
 2
 22
 wenger_16_ASD_discovery_cases
 ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
 62
 ASD
 N/A
 N/A
 31047
 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
 98525
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 beunders_13_DD/ID/ASD_discovery_controls
 Control cohort comprised of Ottawa Heart Institute (OHI) controls from Canada (n=1234), POPGEN controls from Germany (n=1123), SAGE controls from the United States (n=1287), Welcome Trust (WTCCC) controls (n=4783), HapMap Phase 3 controls (n=1056), Lowlands Consortium controls (n=981), and a combined adult controls set (HGDP, NINDS, and others; n=6239)
 16784
 Control
 NA
 NA
 108813
 NA
 NA
 NA
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 149560
 2
 4
 6
 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
 8962
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 406638
 1
 3
 4
 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)
 68650
 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.
 
 393255
 15
 1
 16
 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
 98525
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 beunders_13_DD/ID/ASD_discovery_cases
  NA
 aCGH, array SNP, solid phase hybridization
  Multiple platforms including Agilent 105K/180K/244K, custom Roche Nimblegen 135K, Affymetrix 2.7M/6.0, Illumina Omni 2.5M, SignatureChipOS v2.0, & BlueGnome CytoChip ISCA 60K
 
 
 None
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 qPCR
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 wenger_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina HumanHap 550 or Illumina Human610-Quad v1.0
 PennCNV
 
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  beunders_13_DD/ID/ASD_discovery_controls
  NA
  aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina 1M, Illumina 240K-650K, Agilent 105K/185K
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  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
  beunders_13_DD/ID/ASD_discovery_cases-case21
 NA
 M
 DD/ID and/or MCA
 Clinical profile: N/A
 Cognitive profile: N/A
 58877266
 58986079
  108814
 GRCh38
 Duplication
 No
  brandler_18_ASD_discovery_cases-caseSSC05872
 N/A
 M
 ASD
 Case from SSC cohort
 
 58440271
 58441244
  974
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-case7-0077-003
 N/A
 F
 ASD
 Case from MSSNG cohort
 
 55982670
 55982973
  304
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11083
 NA
 M
 ASD
 NA
 NA
 55230999
 55231170
  172
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14339_4530
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 55335537
 55518619
  183083
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case2230_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 55511248
 55635278
  124031
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4050_100
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 55275410
 55397574
  122165
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5117_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 53658684
 53746739
  88056
 GRCh38
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case552-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 57202362
 57278352
  75991
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003764
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 53332485
 57152396
  3819912
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11150.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 53100410
 53109729
  9320
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13587.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 56865339
 56880802
  15464
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14270.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 56100182
 56116782
  16601
 GRCh38
 Duplication
 Yes
  lesca_12_EP_discovery_cases-case1-1813
 NA
 M
 Epilepsy + autistic features
 Phenotype: i-CSWSS. Seizure Characteristics: Nocturnal. Autistic features: Yes. ADHD features: Yes. Other features: Temporo-sylvian arachnoidal cyst.
 Initial cognitive development: Delayed. Cognitive regression: No.
 59275466
 59449313
  173848
 GRCh38
 Deletion
 Yes
  mosca_16_DCD_discovery_cases-case116503
 N/A
 M
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 59483705
 59518140
  34436
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5117_4
 NA
 M
 ASD
 NA
 NA
 53658684
 53746739
  88056
 GRCh38
 Duplication
 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
 
 57530580
 57590508
  59929
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case47029
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 52997362
 53066011
  68650
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case66673
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 51758368
 51790528
  32161
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11168.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
 52806808
 52823522
  16715
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11409.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
 58455616
 58457629
  2014
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11465.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 73; verbal IQ, 95
 53044013
 53047359
  3347
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11629.p1
 17.6
 M
 Autism
 NA
 Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
 52258498
 52296502
  38005
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11666.p1
 7.7
 M
 Autism
 NA
 Full-scale IQ, 49; non-verbal IQ, 51; verbal IQ, 51
 57981695
 58005175
  23481
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11691.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
 52264392
 52287188
  22797
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11809.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 91
 53043284
 53047359
  4076
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 51907363
 51930572
  23210
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12087.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 108
 57981695
 58003390
  21696
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12115.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 107; verbal IQ, 94
 53375144
 53381621
  6478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12118.p1
 12.6
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
 57981695
 58003390
  21696
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12232.p1
 7.7
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 74; verbal IQ, 51
 57981695
 58005175
  23481
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12257.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 109; non-verbal IQ, 109; verbal IQ, 106
 58566813
 58599267
  32455
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12396.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
 53375144
 53381621
  6478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12407.p1
 9.4
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
 57981695
 58005175
  23481
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12521.p1
 7.2
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 78; verbal IQ, 83
 57981695
 58005175
  23481
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12670.p1
 10.5
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
 55028127
 55127142
  99016
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12784.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 106; verbal IQ, 87
 57981695
 58005175
  23481
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12798.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
 59434065
 59434459
  395
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13169.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 45; non-verbal IQ, 62; verbal IQ, 37
 52264392
 52287188
  22797
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13222.p1
 17.1
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
 51898163
 51949067
  50905
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13367.p1
 9.7
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
 57049154
 57086501
  37348
 GRCh38
 Deletion
 No
  wenger_16_ASD_discovery_cases-case46
 N/A
 N/A
 ASD
 Prior clinical diagnosis of genetic syndrome: n/a
 
 54072341
 54103387
  31047
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case221
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 55028362
 55126886
  98525
 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-controlB201410_1007872193
  N/A
  N/A
  Control
  No previous psychiatric history
 
  51703145
  51791657
  88513
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB968409_1007873505
  N/A
  N/A
  Control
  No previous psychiatric history
 
  51465759
  51525328
  59570
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900099_900099
  N/A
  N/A
  Control
  No previous psychiatric history
 
  53908416
  53964849
  56434
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900212_900212
  N/A
  N/A
  Control
  No previous psychiatric history
 
  58440284
  58472765
  32482
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900348_900348
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57199370
  57348930
  149561
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901173_901173
  N/A
  N/A
  Control
  No previous psychiatric history
 
  54149697
  54217701
  68005
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split482
  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
 
  55262660
  55271621
  8962
  Unknown
  Deletion
  No
  krumm_15_ASD_discovery_controls-control13587.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  56865339
  56880802
  15464
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14136.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  54113201
  54519839
  406639
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14270.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  56100182
  56127106
  26925
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14316.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  56100182
  56116782
  16601
  GRCh38
  Deletion
  Yes
  sanders_11_ASD_discovery_controls-11142.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  57846770
  57858708
  11939
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11235.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  59224909
  59257051
  32143
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11479.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  51310729
  51344580
  33852
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11538.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  54072341
  54465596
  393256
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11629.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  52245391
  52296502
  51112
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12118.s1
  14.8
  F
  Control (matched sibling)
  NA
  NA
  57981695
  58003390
  21696
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12227.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  57981695
  58005175
  23481
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12381.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  55908359
  55922584
  14226
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12469.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  52264392
  52296502
  32111
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12521.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  57981695
  58005175
  23481
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12784.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  57981695
  58005175
  23481
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12939.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  57981695
  57995467
  13773
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13015.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  57981695
  58005175
  23481
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13162.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  57981695
  58005175
  23481
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13168.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  57981695
  58003390
  21696
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13169.s1
  16
  M
  Control (matched sibling)
  NA
  NA
  52264392
  52287188
  22797
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 beunders_13_DD/ID/ASD_discovery_cases-case21
 
 
 Paternal
 Unknown
 Unknown
 PDE4D
 
 brandler_18_ASD_discovery_cases-caseSSC05872
 Not available
 
 Unknown
 
 
 
 
 brandler_18_ASD_replication_cases-case7-0077-003
 No validation step reported
 
 Maternal
 
 
 IL6ST
 
 celestino-soper_11_ASD_discovery_cases-11083
 
 
 Unknown
 Simplex
 NA
 CCNO
 
 engchuan_15_ASD_discovery_cases-case14339_4530
 
 
 Unknown
 
 
 MIR5687,MTREX,PLPP1
 
 engchuan_15_ASD_discovery_cases-case2230_1
 
 
 Unknown
 
 
 RNF138P1,AK4P2,PLPP1,SLC38A9
 
 engchuan_15_ASD_discovery_cases-case4050_100
 
 
 Unknown
 
 
 DHX29,MTREX
 
 engchuan_15_ASD_discovery_cases-case5117_4
 
 
 Unknown
 
 
 NDUFS4
 
 gazzellone_14_ASD_discovery_cases-case552-3
 
 
 Unknown
 Unknown
 Unknown
 GPBP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003764
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FST,ASS1P9,RNU6-272P,MIR581,RN7SL801P,RPL37P25,HSPB3,GZMA,MIR449A,MIR449B,MIR449C,MCIDAS,CCNO,MIR5687,RNF138P1,AK4P2,RNA5SP183,HNRNPH1P3,RNU6-299P,RPL17P22,RNA5SP184,C1GALT1P2,RNA5SP185,PSMC1P4,RNU6ATAC2P,HMGN1P17,RPL26P19,LINC02105,ESM1,GZMK,GZMAP1,CDC20B,GPX8,DHX29,DDX4,IL31RA,FLJ31104,LINC01948,C5orf67,SETD9,MIER3,NDUFS4,ARL15,LINC01033,MTREX,PLPP1,SLC38A9,IL6ST,ANKRD55,MAP3K1,SNX18
 
 krumm_15_ASD_discovery_cases-case11150.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 MOCS2
 
 krumm_15_ASD_discovery_cases-case13587.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MAP3K1
 
 krumm_15_ASD_discovery_cases-case14270.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ANKRD55
 
 lesca_12_EP_discovery_cases-case1-1813
 qPCR
 
 Paternal
 Unknown
 Unknown
 PDE4D
 
 mosca_16_DCD_discovery_cases-case116503
 
 
 Unknown
 Unknown
 Unknown
 PDE4D
 
 pinto_10_ASD_discovery_cases-case5117_4
 Agilent1M
 
 paternal
 NA
 NA
 NDUFS4
 
 prasad_12_ASD_discovery_cases-case100573L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case47029
 
 
 Unknown
 Unknown
 Unknown
 NDUFS4
 
 prasad_12_ASD_discovery_cases-case66673
 
 
 Unknown
 Multiplex
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11168.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ITGA1
 
 sanders_11_ASD_discovery_cases-11409.p1
 
 
 Unknown
 Simplex (trio)
 NA
 PLK2
 
 sanders_11_ASD_discovery_cases-11465.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ITGA2
 
 sanders_11_ASD_discovery_cases-11629.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RPS17P11
 
 sanders_11_ASD_discovery_cases-11666.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11691.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RPS17P11
 
 sanders_11_ASD_discovery_cases-11809.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ITGA2
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12087.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12115.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12118.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12232.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12257.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RAB3C
 
 sanders_11_ASD_discovery_cases-12396.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12407.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12521.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12670.p1
 
 
 Paternal
 Simplex (trio)
 NA
 GZMA,GZMK,GZMAP1,CDC20B
 
 sanders_11_ASD_discovery_cases-12784.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12798.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 PDE4D
 
 sanders_11_ASD_discovery_cases-13169.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RPS17P11
 
 sanders_11_ASD_discovery_cases-13222.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 KATNBL1P4
 
 sanders_11_ASD_discovery_cases-13367.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 wenger_16_ASD_discovery_cases-case46
 
 
 Unknown
 
 
 ARL15
 
 yin_16_ASD_discovery_cases-case221
 
 
 Unknown
 Unknown
 Unknown
 GZMA,GZMK,GZMAP1,CDC20B
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB201410_1007872193
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB968409_1007873505
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900099_900099
 
 
  Unknown
 
 
  RNU6-272P,MIR581,ARL15
 
engchuan_15_ASD_discovery_controls-controlHABC_900212_900212
 
 
  Unknown
 
 
  PLK2
 
engchuan_15_ASD_discovery_controls-controlHABC_900348_900348
 
 
  Unknown
 
 
  GPBP1
 
engchuan_15_ASD_discovery_controls-controlHABC_901173_901173
 
 
  Unknown
 
 
  ARL15
 
kanduri_15_ASD_discovery_controls-control_split482
 
 
  Unknown
 
 
  IL6ST
 
krumm_15_ASD_discovery_controls-control13587.s1
  1M-Duov3
 
  Maternal
 
 
  MAP3K1
 
krumm_15_ASD_discovery_controls-control14136.s1
  Omni2.5-4v1
 
  Paternal
 
 
  RPL37P25,HSPB3,ARL15,LINC01033,SNX18
 
krumm_15_ASD_discovery_controls-control14270.s1
  Omni2.5-4v1
 
  Paternal
 
 
  RNU6-299P,ANKRD55
 
krumm_15_ASD_discovery_controls-control14316.s1
  Omni2.5-4v1
 
  Maternal
 
 
  ANKRD55
 
sanders_11_ASD_discovery_controls-11142.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11235.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PDE4D
 
sanders_11_ASD_discovery_controls-11479.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11538.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPL37P25,HSPB3,ARL15,LINC01033
 
sanders_11_ASD_discovery_controls-11629.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPS17P11
 
sanders_11_ASD_discovery_controls-12118.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12227.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12381.s1
 
 
  Maternal
  Simplex (quad)
  NA
  IL31RA
 
sanders_11_ASD_discovery_controls-12469.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RPS17P11
 
sanders_11_ASD_discovery_controls-12521.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12784.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12939.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13015.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13162.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13168.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13169.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RPS17P11
 

No Animal Model Data Available
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