12q24.12CNV Type: Deletion-Duplication
Largest CNV size: 153394 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
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
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
134094
0
7
7
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
153394
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
140689
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
83189
0
2
2
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
15194
5
0
5
qiao_12_ASD/ID_discovery_cases
Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
52
ASD and/or ID (intellectual disability)
NA
NA
143669
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
43843
0
2
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
134094
2
6
8
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
134094
0
8
8
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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)
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)
15194
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.
142427
1
3
4
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
qiao_12_ASD/ID_discovery_cases
Canadian
Array SNP
Affymetrix 2.7M
Affymetrix ChAS v.1.1
QMPSF
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
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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-case14244_3680
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
111743274
111877368
134095
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16031_1571005001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
111744441
111877368
132928
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21016_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
111743274
111877368
134095
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3044_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
111743274
111877368
134095
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3075_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
111744441
111877368
132928
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3436_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
111743274
111877368
134095
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3545_2
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
111752634
111877368
124735
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0109-000
NA
M
ASD
NA
NA
111746083
111899476
153394
GRCh38
Duplication
Yes
o'roak_12_ASD_discovery_cases-case12581.p1
NA
F
ASD/Autism
No additional clinical info available.
Low IQ. Non verbal IQ, 34
111736830
111877519
140690
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case99HI0694B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
111702160
111785348
83189
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
111672659
111737006
64348
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case136064
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
110497497
110510158
12662
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case146904L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
110497497
110512690
15194
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case167532
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
110497497
110510158
12662
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case67766
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
110497497
110510158
12662
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case87471
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
110497497
110510158
12662
Unknown
Deletion
No
qiao_12_ASD_discovery_cases-case10-122A
NA
NA
ASD and/or ID
NA
NA
110654372
110798041
143669
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1049-0
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
111766623
111810465
43843
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-267
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
111769091
111810465
41375
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11274.p1
11.6
F
ASD
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 107
111744441
111877368
132928
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11328.p1
7.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 81
111578212
111587387
9176
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11860.p1
6
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
111748470
111877368
128899
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12361.p1
4.8
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 98
111578212
111587387
9176
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12456.p1
14.3
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
111743274
111877368
134095
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12505.p1
5.3
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
111743274
111877368
134095
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12581.p1
12.4
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
111743274
111877368
134095
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12878.p1
6.1
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
111752634
111877368
124735
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-control110036023372_
N/A
N/A
Control
No previous psychiatric history
111743274
111843580
100307
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB120069_1007854769
N/A
N/A
Control
No previous psychiatric history
111743274
111877368
134095
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB315954_1007852594
N/A
N/A
Control
No previous psychiatric history
111743274
111877368
134095
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB534174_1007854002
N/A
N/A
Control
No previous psychiatric history
111743274
111877368
134095
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB665259_1007853930
N/A
N/A
Control
No previous psychiatric history
111743274
111877368
134095
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB801854_1007853969
N/A
N/A
Control
No previous psychiatric history
111743274
111877368
134095
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900175_900175
N/A
N/A
Control
No previous psychiatric history
111744441
111877368
132928
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900604_900604
N/A
N/A
Control
No previous psychiatric history
111743274
111877368
134095
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11233.s1
4.7
M
Control (matched sibling)
NA
NA
111743274
111877368
134095
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11274.s1
9.1
M
Control (matched sibling)
NA
NA
111743274
111877368
134095
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11328.s1
9.5
F
Control (matched sibling)
NA
NA
111578212
111587387
9176
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11860.s1
14.1
M
Control (matched sibling)
NA
NA
111734941
111877368
142428
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case14244_3680
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
engchuan_15_ASD_discovery_cases-case16031_1571005001
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
engchuan_15_ASD_discovery_cases-case21016_1
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
engchuan_15_ASD_discovery_cases-case3044_6
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
engchuan_15_ASD_discovery_cases-case3075_3
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
engchuan_15_ASD_discovery_cases-case3436_3
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
engchuan_15_ASD_discovery_cases-case3545_2
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
marshall_08_ASD_discovery_cases-NA0109-000
qPCR, qmPCR
Unknown
NA
NA
MIR6761,MAPKAPK5-AS1,RPS2P41,ADAM1A,ACAD10,MAPKAPK5,ALDH2
o'roak_12_ASD_discovery_cases-case12581.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
poultney_13_ASD_discovery_cases-case99HI0694B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ACAD10,ALDH2
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ACAD10,BRAP
prasad_12_ASD_discovery_cases-case136064
Unknown
Unknown
Unknown
ATXN2
prasad_12_ASD_discovery_cases-case146904L
Unknown
Unknown
Unknown
ATXN2
prasad_12_ASD_discovery_cases-case167532
Unknown
Unknown
Unknown
ATXN2
prasad_12_ASD_discovery_cases-case67766
Unknown
Unknown
Unknown
ATXN2
prasad_12_ASD_discovery_cases-case87471
Unknown
Unknown
Unknown
ATXN2
qiao_12_ASD_discovery_cases-case10-122A
QMPSF
Maternal
Unknown
Unknown
ACAD10,ALDH2,MAPKAPK5
sajan_13_ACC/CBLH/PMG_discovery_cases-case1049-0
Not tested by qPCR
Unknown
Unknown
Unknown
MIR6761,ALDH2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-267
Not tested by qPCR
Unknown
Unknown
Unknown
MIR6761,ALDH2
sanders_11_ASD_discovery_cases-11274.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
sanders_11_ASD_discovery_cases-11328.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATXN2
sanders_11_ASD_discovery_cases-11860.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
sanders_11_ASD_discovery_cases-12361.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATXN2
sanders_11_ASD_discovery_cases-12456.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
sanders_11_ASD_discovery_cases-12505.p1
Maternal
Simplex (trio)
NA
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
sanders_11_ASD_discovery_cases-12581.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
sanders_11_ASD_discovery_cases-12878.p1
Maternal
Simplex (trio)
NA
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036023372_
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
engchuan_15_ASD_discovery_controls-controlB120069_1007854769
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
engchuan_15_ASD_discovery_controls-controlB315954_1007852594
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
engchuan_15_ASD_discovery_controls-controlB534174_1007854002
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
engchuan_15_ASD_discovery_controls-controlB665259_1007853930
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
engchuan_15_ASD_discovery_controls-controlB801854_1007853969
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
engchuan_15_ASD_discovery_controls-controlHABC_900175_900175
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
engchuan_15_ASD_discovery_controls-controlHABC_900604_900604
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
sanders_11_ASD_discovery_controls-11233.s1
Maternal
Simplex (quad)
NA
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
sanders_11_ASD_discovery_controls-11274.s1
Paternal
Simplex (quad)
NA
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
sanders_11_ASD_discovery_controls-11328.s1
Paternal
Simplex (quad)
NA
ATXN2
sanders_11_ASD_discovery_controls-11860.s1
Maternal
Simplex (quad)
NA
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
No Animal Model Data Available