11p15.2CNV Type: Duplication
Largest CNV size: 28482 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
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.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
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
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
172000
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
69250
2
0
2
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
328684
0
1
1
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
21726
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
21726
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
341000
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
20145
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
32309
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
77564
1
2
3
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
477363
0
4
4
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
28482
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
60779
1
0
1
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
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
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
118761
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)
77564
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.
143178
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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_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
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
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)
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
battaglia_13_DD/ID/ASD_discovery_cases-case66
4 yrs. 4 mos.
M
PDD-NOS and borderline DD/ID
Autism: yes (PDD-NOS). Epilepsy: no. Dysmorphic features: yes.
Borderline DD/ID
14668177
14840902
172726
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case17033_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
13773877
13818172
44296
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2163_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
13776571
13845821
69251
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002608
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14924804
15253488
328685
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11964.p1
N/A
F
ASD
ASD proband from SSC quad family 11964. SRS score of 90.
Full-scale IQ (FSIQ) score of 40.
14859042
14880768
21727
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11964.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
14859042
14880768
21727
GRCh38
Duplication
Yes
nava_13_ASD_discovery_cases-Fam682Proband682-01
N/A
M
ASD
Additional clinical profile info N/A
ID
14913140
15254013
340874
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-267-1
ASD
13212299
13232443
20145
Unknown
Duplication
No
o'roak_12_ASD_discovery_cases-case11964.p1
NA
F
ASD/Autism
Case also identified with de novo TEPP and ZC3H12B missense mutations. No additional clinical info available.
Low IQ. Non verbal IQ, 40
14853608
14885917
32310
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case115730L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
13042361
13058334
15974
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case67839
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
14828476
14859661
31186
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case92812
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
13042361
13119924
77564
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1147-0
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG).
14051116
14083951
32836
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1147-0
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG).
13523105
14000467
477363
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-178
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
Developmental delay: yes. Intellectual disability: N/A.
14051116
14083951
32836
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-178
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
Developmental delay: yes. Intellectual disability: N/A.
13523105
14000467
477363
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11964.p1
12.4
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
14853608
14882090
28483
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-control110036023596_
N/A
N/A
Control
No previous psychiatric history
14699296
14760075
60780
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control12969.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
13374094
13492855
118762
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-12969.s1
5.8
M
Control (matched sibling)
NA
NA
13374619
13517797
143179
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
battaglia_13_DD/ID/ASD_discovery_cases-case66
FISH or qPCR
Paternal
Paternal
Possible multi-generational
Segregated
MORF4L1P3,PDE3B
engchuan_15_ASD_discovery_cases-case17033_1
Unknown
LINC02548
engchuan_15_ASD_discovery_cases-case2163_1
Unknown
LINC02548,LINC02545
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002608
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
CALCA,OR7E41P,CALCB,INSC
krumm_13_ASD_discovery_cases-case11964.p1
Paternal
Simplex
Segregated
CYP2R1,PDE3B
krumm_15_ASD_discovery_cases-case11964.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CYP2R1,PDE3B
nava_13_ASD_discovery_cases-Fam682Proband682-01
Maternal
Simplex
Unknown
CALCA,OR7E41P,CALCB,INSC
nord_11_ASD_discovery_cases-267-1
Paternal
0 genes
o'roak_12_ASD_discovery_cases-case11964.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
CYP2R1,PDE3B
prasad_12_ASD_discovery_cases-case115730L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case67839
Unknown
Unknown
Unknown
CYP2R1,PDE3B
prasad_12_ASD_discovery_cases-case92812
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1147-0
qPCR
Unknown
Unknown
Unknown
SPON1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1147-0
qPCR
Unknown
Unknown
Unknown
HMGN2P36,FAR1-IT1,RPL39P26,CENPUP1,RNA5SP331,FAR1,LINC02548,LINC02545,SPON1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-178
Not tested by qPCR
Unknown
Unknown
Unknown
SPON1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-178
Not tested by qPCR
Unknown
Unknown
Unknown
HMGN2P36,FAR1-IT1,RPL39P26,CENPUP1,RNA5SP331,FAR1,LINC02548,LINC02545,SPON1
sanders_11_ASD_discovery_cases-11964.p1
Paternal
Simplex (quad-proband matched)
Segregated
CYP2R1,PDE3B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036023596_
Unknown
PDE3B
krumm_15_ASD_discovery_controls-control12969.s1
Illumina 1MDuo
Paternal
PTH,BTBD10,ARNTL
sanders_11_ASD_discovery_controls-12969.s1
Paternal
Simplex (quad)
NA
PTH,BTBD10,ARNTL
No Animal Model Data Available