12q24.12-q24.13CNV Type: Duplication
Largest CNV size: 136019 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
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
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
136018
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
126538
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
126538
0
7
7
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
136019
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)
135887
0
2
2
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
0
0
0
0
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
126538
0
2
2
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)
126540
0
1
1
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_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)
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)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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)
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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-case5407_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
111743274
111879292
136019
GRCh38
Duplication
No
krumm_13_ASD_discovery_cases-case12581.p1
N/A
F
ASD
ASD proband from SSC quad family 12581. SRS score of 90.
Full-scale IQ (FSIQ) score of 34.
111744642
111871180
126539
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11274.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
111744642
111871180
126539
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11860.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
111744642
111871180
126539
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12505.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
111744642
111871180
126539
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12581.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
111744642
111871180
126539
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12608.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
111744642
111871180
126539
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12878.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
111744642
111871180
126539
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13783.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
111744642
111871180
126539
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5407_3
NA
M
ASD
NA
NA
111743274
111879292
136019
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case98HI0158A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU010904; NDAR ID NDAR_INVWN987FMF)
111744641
111880527
135887
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0928A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU015903; NDAR ID NDAR_INVEF147JVT)
111744641
111871180
126540
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
krumm_15_ASD_discovery_controls-control11274.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
111744642
111871180
126539
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11860.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
111744642
111871180
126539
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control05C38689A
N/A
M
Control
NIMH Control (NIMH ID 36827)
111744641
111871180
126540
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-case5407_3
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
krumm_13_ASD_discovery_cases-case12581.p1
Maternal
Simplex
Segregated
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
krumm_15_ASD_discovery_cases-case11274.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
krumm_15_ASD_discovery_cases-case11860.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
krumm_15_ASD_discovery_cases-case12505.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
krumm_15_ASD_discovery_cases-case12581.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
krumm_15_ASD_discovery_cases-case12608.p1
1M-Duov3
Paternal
Simplex
Segregated
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
krumm_15_ASD_discovery_cases-case12878.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
krumm_15_ASD_discovery_cases-case13783.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
pinto_10_ASD_discovery_cases-case5407_3
Agilent1M
maternal
NA
NA
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
poultney_13_ASD_discovery_cases-case98HI0158A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR6761,MAPKAPK5-AS1,RPS2P41,ACAD10,MAPKAPK5,ALDH2
poultney_13_ASD_discovery_cases-case99HI0928A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_controls-control11274.s1
Illumina 1M
Paternal
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
krumm_15_ASD_discovery_controls-control11860.s1
Illumina 1MDuo
Maternal
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
poultney_13_ASD_discovery_controls-control05C38689A
Unknown
MIR6761,MAPKAPK5-AS1,ACAD10,MAPKAPK5,ALDH2
No Animal Model Data Available