11q23.1CNV Type: Deletion-Duplication
Largest CNV size: 25958 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
Additional Locus Information
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
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
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
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
802746
0
1
1
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
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
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
feliciano_19_ASD_discovery_cases-caseSP0000820
N/A
F
ASD
Family history: mother presents with anxiety and OCD; father negative for ASD, other mental health diagnoses unknown.
111284076
112086822
802747
GRCh38
Duplication
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
feliciano_19_ASD_discovery_cases-caseSP0000820
De novo
COLCA2,MIR4491,RNU2-60P,MIR34B,MIR34C,RN7SKP273,GNG5P3,FDXACB1,C11orf1,RPL37AP8,HSPB2,RNA5SP351,PPIHP1,RNU6-893P,TIMM8B,COLCA1,BTG4,C11orf88,PPP2R1B,ALG9-IT1,CRYAB,HSPB2-C11orf52,C11orf52,DLAT,NKAPD1,C11orf53,POU2AF1,LAYN,SIK2,ALG9,DIXDC1,PIH1D2
null
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
No Animal Model Data Available