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11q23.1CNV Type: Deletion-Duplication


Largest CNV size: 25958 bp

Statistics Box:
Number of Reports: 4



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
Excess of rare, inherited truncating mutations in autism.
Deletion-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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 32204
 2
 0
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 38260
 2
 1
 3
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 29033
 1
 1
 2
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 25958
 2
 1
 3

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
 44782
 3
 0
 3
 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
 38260
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 38260
 3
 0
 3
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 51459
 1
 0
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 8702
 1
 0
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 29033
 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.
 
 58432
 6
 0
 6

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 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
 
 

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_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
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

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_cases-case13015_203
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 112176338
 112207692
  31355
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3472_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 112175488
 112207692
  32205
 GRCh38
 Deletion
 No
  krumm_15_ASD_discovery_cases-case11694.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 111753442
 111766361
  12920
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13047.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 112175601
 112213861
  38261
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13714.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 112175601
 112213861
  38261
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case144357
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 111120292
 111149324
  29033
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case155569L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 110021917
 110050872
  28956
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11694.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
 111745437
 111771395
  25959
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11797.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 116
 111293926
 111296832
  2907
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12091.p1
 4.4
 F
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
 111928829
 111934613
  5785
 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-controlHABC_900364_900364
  N/A
  N/A
  Control
  No previous psychiatric history
 
  111621164
  111665946
  44783
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900507_900507
  N/A
  N/A
  Control
  No previous psychiatric history
 
  112175488
  112207692
  32205
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900775_900775
  N/A
  N/A
  Control
  No previous psychiatric history
 
  110982461
  111024690
  42230
  GRCh38
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12630.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12630. SRS score of 41.
 
  112175601
  112213861
  38261
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11399.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  112199698
  112233555
  33858
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12630.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  112175601
  112213861
  38261
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13047.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  112175601
  112213861
  38261
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11399.s1
  NA
  M
  Control
  NA
  NA
  112196035
  112247493
  51459
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control04C30686A
  N/A
  M
  Control
  NIMH Control (NIMH ID 61367)
 
  112037271
  112045972
  8702
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11399.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  112197870
  112256302
  58433
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11505.s1
  9.9
  F
  Control (matched sibling)
  NA
  NA
  112355440
  112391464
  36025
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11797.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  111293926
  111296832
  2907
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12091.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  111928829
  111934613
  5785
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12630.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  112172891
  112207692
  34802
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12676.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  110637317
  110656411
  19095
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case13015_203
 
 
 Unknown
 
 
 KCTD9P4,BCO2
 
 engchuan_15_ASD_discovery_cases-case3472_3
 
 
 Unknown
 
 
 KCTD9P4,BCO2
 
 krumm_15_ASD_discovery_cases-case11694.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 PPP2R1B
 
 krumm_15_ASD_discovery_cases-case13047.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MRPS36P4,KCTD9P4,BCO2
 
 krumm_15_ASD_discovery_cases-case13714.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 MRPS36P4,KCTD9P4,BCO2
 
 prasad_12_ASD_discovery_cases-case144357
 
 
 Unknown
 Unknown
 Unknown
 PPP2R1B
 
 prasad_12_ASD_discovery_cases-case155569L
 
 
 Unknown
 Unknown
 Unknown
 ARHGAP20
 
 sanders_11_ASD_discovery_cases-11694.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 PPP2R1B
 
 sanders_11_ASD_discovery_cases-11797.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 COLCA1
 
 sanders_11_ASD_discovery_cases-12091.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DIXDC1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900364_900364
 
 
  Unknown
 
 
  SIK2
 
engchuan_15_ASD_discovery_controls-controlHABC_900507_900507
 
 
  Unknown
 
 
  KCTD9P4,BCO2
 
engchuan_15_ASD_discovery_controls-controlHABC_900775_900775
 
 
  Unknown
 
 
 
 
krumm_13_ASD_discovery_controls-control12630.s1
 
 
  Paternal
  Simplex
 
  MRPS36P4,KCTD9P4,BCO2
 
krumm_15_ASD_discovery_controls-control11399.s1
  Illumina 1M
 
  Maternal
 
 
  MRPS36P4,RPS12P21,PTS,BCO2
 
krumm_15_ASD_discovery_controls-control12630.s1
  Illumina 1MDuo
 
  Paternal
 
 
  MRPS36P4,KCTD9P4,BCO2
 
krumm_15_ASD_discovery_controls-control13047.s1
  Omni2.5-4v1
 
  Maternal
 
 
  MRPS36P4,KCTD9P4,BCO2
 
levy_11_ASD_discovery_controls-11399.s1
 
 
  Maternal
  Simplex
  NA
  MRPS36P4,RPS12P21,RPS6P16,PTS,BCO2
 
poultney_13_ASD_discovery_controls-control04C30686A
 
 
  Unknown
 
 
  DLAT
 
sanders_11_ASD_discovery_controls-11399.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MRPS36P4,RPS12P21,RPS6P16,PLET1,PTS,BCO2
 
sanders_11_ASD_discovery_controls-11505.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11797.s1
 
 
  Maternal
  Simplex (quad)
  NA
  COLCA1
 
sanders_11_ASD_discovery_controls-12091.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DIXDC1
 
sanders_11_ASD_discovery_controls-12630.s1
 
 
  Paternal
  Simplex (quad)
  NA
  KCTD9P4,BCO2
 
sanders_11_ASD_discovery_controls-12676.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ARHGAP20
 

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