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11q24.3CNV Type: Deletion-Duplication


Largest CNV size: 228680 bp

Statistics Box:
Number of Reports: 11



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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
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.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
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
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 akshoomoff_14_ASD_discovery_cases
 17 patients with Jacobsen syndrome (11q terminal deletion disorder), prospectively recruited from the 11q Research and Resource Group; and 3 additional patients with atypical distal 11q deletions
 20
 Diagnosis of ASD assessed using ADOS (n=18) or ADI-R (n=2). Cognitive abilities in cases assessed using the Bayley Scales of Infant and Toddler Development, Third Edition; the Differential Ability Scales; the Wechsler Intelligence Scale for Children, Fourth Edition; or the Wechsler Adult Intelligence Scale, Fourth Edition.
 Range, 3.8-21.9 yrs.
 20.0% Male
 240000
 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
 174
 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
 954495
 1
 1
 2
 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
 
 
 611348
 1
 0
 1
 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
 45593
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 22729
 1
 0
 1
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 600000
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 228680
 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
 8428
 1
 0
 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
 223670
 6
 1
 7
 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
 130696
 0
 1
 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
 201372
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 228680
 0
 2
 2
 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)
 8428
 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.
 
 223670
 4
 1
 5
 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
 130696
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 akshoomoff_14_ASD_discovery_cases
  N/A
 aCGH
  Signature Genomics custom-designed OS V2.0
 
 
 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
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 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
 
 
 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
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  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
  akshoomoff_14_ASD_discovery_cases-patient20
 8.0 yrs.
 F
 ASD
 Research diagnosis: ASD. ADOS classification: autism. SCQ score above cutoff: N/A.
 IQ estimate: N/A. VABS-II composite score: 59.
 128734520
 128977992
  243000
 Unknown
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11533
 NA
 M
 ASD
 NA
 NA
 129878238
 129878412
  175
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case17028_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 130335938
 130370866
  34929
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6185_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 130769783
 131724279
  954497
 GRCh38
 Duplication
 No
  gai_11_ASD_replication_cases-AU082105
 
 
 Autism
 
 
 129437536
 130048883
  611348
 Unknown
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case672-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 129900031
 129945624
  45594
 GRCh38
 Duplication
 No
  krumm_15_ASD_discovery_cases-case12858.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 130405557
 130428286
  22730
 GRCh38
 Deletion
 Yes
  leppa_16_ASD_discovery_cases-AU082105
 N/A
 M
 ASD
 
 
 130062105
 130675105
  613001
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11455.p1
 NA
 M
 ASD
 NA
 NA
 128740712
 128969391
  228680
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case98320L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 129497307
 129505734
  8428
 Unknown
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11158.p1
 10.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
 130570428
 130759258
  188831
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11455.p1
 7.6
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
 128745591
 128969261
  223671
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11818.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
 130536096
 130545740
  9645
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11843.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
 130536096
 130545740
  9645
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12239.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
 130536096
 130552876
  16781
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12600.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 69
 130017887
 130026177
  8291
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12858.p1
 4.2
 F
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
 130411286
 130430090
  18805
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case420
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 129662447
 129793142
  130696
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB275079_1007852942
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128822025
  129023397
  201373
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11277.s1
  NA
  F
  Control
  NA
  NA
  129898798
  129940749
  41952
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11455.s1
  NA
  F
  Control
  NA
  NA
  128740712
  128969391
  228680
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11158.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  130570428
  130759258
  188831
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11455.s1
  8.9
  F
  Control (matched sibling)
  NA
  NA
  128745591
  128969261
  223671
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11615.s1
  10.7
  F
  Control (matched sibling)
  NA
  NA
  130536096
  130552876
  16781
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12239.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  130536096
  130552876
  16781
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12864.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  130536096
  130545740
  9645
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 akshoomoff_14_ASD_discovery_cases-patient20
 
 
 De novo
 Unknown
 Unknown
 Estimated gene content: KCNJ1,KCNJ5,C11orf45,TP53AIP1,ARHGAP32
 
 celestino-soper_11_ASD_discovery_cases-11533
 
 
 Unknown
 Simplex
 NA
 NFRKB
 
 engchuan_15_ASD_discovery_cases-case17028_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6185_5
 
 
 Unknown
 
 
 PPP1R10P1,RN7SL167P,RNU6ATAC12P,NTM-AS1,LINC02551,SNX19,NTM
 
 gai_11_ASD_replication_cases-AU082105
 
 
 Inherited
 
 
 APLP2, ST14, ZBTB44, ADAMTS8, ADAMTS15
 
 gazzellone_14_ASD_discovery_cases-case672-3
 
 
 Unknown
 Unknown
 Unknown
 PRDM10
 
 krumm_15_ASD_discovery_cases-case12858.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ADAMTS8
 
 leppa_16_ASD_discovery_cases-AU082105
 
 
 Maternal
 Multiplex
 Not segregated (CNV not present in affected sibling)
 RPL34P21,DDX18P5,RN7SL778P,BAK1P2,MIR8052,APLP2,ST14,ADAMTS15,ZBTB44,ADAMTS8,C11orf44
 
 levy_11_ASD_discovery_cases-11455.p1
 
 
 Paternal
 Simplex
 Not segregated
 C11orf45,KCNJ5,TP53AIP1,FLI1,KCNJ1,ARHGAP32
 
 prasad_12_ASD_discovery_cases-case98320L
 qPCR
 
 Maternal
 Unknown
 Unknown
 APLP2
 
 sanders_11_ASD_discovery_cases-11158.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MIR8052,C11orf44
 
 sanders_11_ASD_discovery_cases-11455.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C11orf45,KCNJ5,TP53AIP1,FLI1,KCNJ1,ARHGAP32
 
 sanders_11_ASD_discovery_cases-11818.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11843.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12239.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 BAK1P2
 
 sanders_11_ASD_discovery_cases-12600.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12858.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ADAMTS8
 
 yin_16_ASD_discovery_cases-case420
 
 
 Unknown
 Unknown
 Unknown
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
 
 
  Unknown
 
 
  C11orf45,RNU6-876P,KCNJ5,TP53AIP1,KCNJ1,ARHGAP32
 
levy_11_ASD_discovery_controls-11277.s1
 
 
  Maternal
  Simplex
  NA
  PRDM10
 
levy_11_ASD_discovery_controls-11455.s1
 
 
  Paternal
  Simplex
  NA
  C11orf45,KCNJ5,TP53AIP1,FLI1,KCNJ1,ARHGAP32
 
sanders_11_ASD_discovery_controls-11158.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR8052,C11orf44
 
sanders_11_ASD_discovery_controls-11455.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C11orf45,KCNJ5,TP53AIP1,FLI1,KCNJ1,ARHGAP32
 
sanders_11_ASD_discovery_controls-11615.s1
 
 
  Unknown
  Simplex (quad)
  NA
  BAK1P2
 
sanders_11_ASD_discovery_controls-12239.s1
 
 
  Unknown
  Simplex (quad)
  NA
  BAK1P2
 
sanders_11_ASD_discovery_controls-12864.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 

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