1p11.2CNV Type: Deletion-Duplication
Largest CNV size: 322321 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
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
322320
0
9
9
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
117911
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
177940
0
1
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
322321
0
1
1
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
180511
0
3
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
178150
3
1
4
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
203314
1
11
12
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
117911
0
3
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
177940
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
178150
2
1
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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)
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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-case14282_4050
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
121426988
121607560
180573
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14367_4800
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
121429348
121607560
178213
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3025_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
121422747
121607560
184814
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3174_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
121426988
121607560
180573
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3613_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
121426988
121607560
180573
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4530_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
121429348
121628780
199433
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5413_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
121344831
121607560
262730
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6384_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
121429348
121628780
199433
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8623_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
121429348
121604818
175471
GRCh38
Duplication
No
kanduri_15_ASD_discovery_cases-case1920
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
121171208
121289118
117911
Unknown
Duplication
No
levy_11_ASD_discovery_cases-11244.p1
NA
M
ASD
NA
NA
121429691
121607692
178002
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5413_3
NA
M
ASD
NA
NA
121344831
121607560
262730
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1028-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: no.
Developmental delay: yes. Intellectual disability: yes.
121426988
121595179
168192
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDR08-020a1
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
121429348
121607560
178213
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-267
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
121426988
121607560
180573
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12308.p1
14.3
F
Aspergers
NA
Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 105
121411267
121426988
15722
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12561.p1
5.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
121411267
121426988
15722
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12759.p1
8.8
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 114; verbal IQ, 89
121429348
121607560
178213
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13063.p1
7.8
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 62; verbal IQ, 30
121407598
121422747
15150
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-control110036011559_r
N/A
N/A
Control
No previous psychiatric history
121429348
121607560
178213
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB334479_1007875807
N/A
N/A
Control
No previous psychiatric history
121426988
121607560
180573
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB507195_1007874871
N/A
N/A
Control
No previous psychiatric history
121429348
121607560
178213
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB582098_1007870332
N/A
N/A
Control
No previous psychiatric history
121422747
121607560
184814
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB769494_1007846090
N/A
N/A
Control
No previous psychiatric history
121426988
121607560
180573
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900039_900039
N/A
N/A
Control
No previous psychiatric history
121429348
121607560
178213
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900123_900123
N/A
N/A
Control
No previous psychiatric history
121429348
121620883
191536
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900405_900405
N/A
N/A
Control
No previous psychiatric history
121426988
121607560
180573
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900412_900412
N/A
N/A
Control
No previous psychiatric history
121429348
121620551
191204
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900501_900501
N/A
N/A
Control
No previous psychiatric history
121426988
121607560
180573
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900892_900892
N/A
N/A
Control
No previous psychiatric history
121417175
121620551
203377
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
N/A
N/A
Control
No previous psychiatric history
121357517
121426988
69472
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1369
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
121251086
121289118
38033
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1839
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
121171208
121289118
117911
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split463
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
121171208
121289118
117911
Unknown
Duplication
No
levy_11_ASD_discovery_controls-11244.s1
NA
M
Control
NA
NA
121429691
121607692
178002
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12460.s1
7
M
Control (matched sibling)
NA
NA
121407598
121426988
19391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12759.s1
5.8
F
Control (matched sibling)
NA
NA
121429348
121607560
178213
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13063.s1
4
F
Control (matched sibling)
NA
NA
121407598
121417175
9578
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-case14282_4050
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_cases-case14367_4800
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_cases-case3025_4
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_cases-case3174_3
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_cases-case3613_3
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_cases-case4530_1
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_cases-case5413_3
Unknown
LINC01691,EMBP1,SRGAP2C,SRGAP2-AS1
engchuan_15_ASD_discovery_cases-case6384_3
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_cases-case8623_201
Unknown
LINC01691,EMBP1
kanduri_15_ASD_discovery_cases-case1920
Paternal
Unknown
Unknown
EMBP1 (non-coding RNA, exonic)
levy_11_ASD_discovery_cases-11244.p1
Maternal
Simplex
Not segregated
LINC01691,EMBP1
pinto_10_ASD_discovery_cases-case5413_3
Agilent1M
maternal
NA
NA
LINC01691,EMBP1,SRGAP2C,SRGAP2-AS1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1028-0
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01691,EMBP1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDR08-020a1
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01691,EMBP1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-267
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01691,EMBP1
sanders_11_ASD_discovery_cases-12308.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12561.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12759.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01691,EMBP1
sanders_11_ASD_discovery_cases-13063.p1
Maternal
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036011559_r
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_controls-controlB334479_1007875807
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_controls-controlB507195_1007874871
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_controls-controlB582098_1007870332
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_controls-controlB769494_1007846090
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_controls-controlHABC_900039_900039
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_controls-controlHABC_900123_900123
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_controls-controlHABC_900405_900405
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_controls-controlHABC_900412_900412
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_controls-controlHABC_900501_900501
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_controls-controlHABC_900892_900892
Unknown
LINC01691,EMBP1
engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
Unknown
SRGAP2C,SRGAP2-AS1
kanduri_15_ASD_discovery_controls-control_split1369
Unknown
EMBP1 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split1839
Unknown
EMBP1 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split463
Unknown
EMBP1 (non-coding RNA, exonic)
levy_11_ASD_discovery_controls-11244.s1
Maternal
Simplex
NA
LINC01691,EMBP1
sanders_11_ASD_discovery_controls-12460.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12759.s1
Paternal
Simplex (quad)
NA
LINC01691,EMBP1
sanders_11_ASD_discovery_controls-13063.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available