1q32.3CNV Type: Deletion-Duplication
Largest CNV size: 45123 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
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
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
5908
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
23924
7
0
7
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
17298
1
0
1
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
45123
9
1
10
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
146474
0
1
1
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
5908
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)
17298
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.
16037
15
0
15
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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)
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)
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
krumm_13_ASD_discovery_cases-case12175.p1
N/A
M
ASD
ASD proband from SSC quad family 12175. SRS score of 83.
Full-scale IQ (FSIQ) score of 71.
212830241
212836149
5909
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11360.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
212830241
212836149
5909
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12369.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
212830241
212836149
5909
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12674.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
212812227
212836151
23925
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13658.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
212830241
212836149
5909
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13691.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
212830241
212836149
5909
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13717.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
212830241
212836149
5909
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13926.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
212830241
212836149
5909
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case46475
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
211062891
211080188
17298
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11168.p1
11.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
212828746
212836127
7382
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11206.p1
6.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
213143203
213146256
3054
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11808.p1
8.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
212828746
212838470
9725
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11811.p1
16.9
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 80
212828746
212838470
9725
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12175.p1
5.1
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
212828746
212842482
13737
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12313.p1
11.8
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
212828746
212838470
9725
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12403.p1
11.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
212828746
212838470
9725
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12921.p1
11.4
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
213024487
213069610
45124
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12976.p1
4.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
212828746
212838470
9725
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13120.p1
8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 109; verbal IQ, 118
212830086
212838470
8385
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_900398_900398
N/A
N/A
Control
No previous psychiatric history
212201588
212348062
146475
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11159.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
212830241
212836149
5909
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11114.s1
11.6
F
Control (matched sibling)
NA
NA
212828746
212836127
7382
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11115.s1
15.8
F
Control (matched sibling)
NA
NA
212828746
212836127
7382
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11206.s1
8.3
F
Control (matched sibling)
NA
NA
213143203
213146256
3054
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11984.s1
7.7
F
Control (matched sibling)
NA
NA
212828746
212838470
9725
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12120.s1
7.8
F
Control (matched sibling)
NA
NA
212828746
212844783
16038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12175.s1
6.7
F
Control (matched sibling)
NA
NA
212828746
212838470
9725
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12219.s1
11.4
F
Control (matched sibling)
NA
NA
212828746
212844783
16038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12325.s1
16.3
F
Control (matched sibling)
NA
NA
212828746
212844783
16038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12347.s1
7.3
F
Control (matched sibling)
NA
NA
212828746
212844783
16038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12568.s1
15.7
F
Control (matched sibling)
NA
NA
212828746
212838470
9725
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12621.s1
8.8
M
Control (matched sibling)
NA
NA
212828746
212838470
9725
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
212828746
212842482
13737
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12962.s1
8.3
F
Control (matched sibling)
NA
NA
212828746
212838470
9725
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12984.s1
12
M
Control (matched sibling)
NA
NA
212828746
212838470
9725
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13120.s1
6.2
M
Control (matched sibling)
NA
NA
212828746
212838470
9725
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_13_ASD_discovery_cases-case12175.p1
Paternal
Simplex
Segregated
SPATA45
krumm_15_ASD_discovery_cases-case11360.p1
Illumina 1M
Maternal
Simplex
Segregated
SPATA45
krumm_15_ASD_discovery_cases-case12369.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
SPATA45
krumm_15_ASD_discovery_cases-case12674.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
TATDN3,SPATA45
krumm_15_ASD_discovery_cases-case13658.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
SPATA45
krumm_15_ASD_discovery_cases-case13691.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
SPATA45
krumm_15_ASD_discovery_cases-case13717.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
SPATA45
krumm_15_ASD_discovery_cases-case13926.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
SPATA45
prasad_12_ASD_discovery_cases-case46475
Unknown
Unknown
Unknown
C1orf227
sanders_11_ASD_discovery_cases-11168.p1
Maternal
Simplex (quad-proband matched)
Segregated
SPATA45
sanders_11_ASD_discovery_cases-11206.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPS6KC1
sanders_11_ASD_discovery_cases-11808.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SPATA45
sanders_11_ASD_discovery_cases-11811.p1
Maternal
Simplex (trio)
NA
SPATA45
sanders_11_ASD_discovery_cases-12175.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SPATA45
sanders_11_ASD_discovery_cases-12313.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SPATA45
sanders_11_ASD_discovery_cases-12403.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SPATA45
sanders_11_ASD_discovery_cases-12921.p1
Paternal
Simplex (quad-proband matched)
Segregated
RPS6KC1
sanders_11_ASD_discovery_cases-12976.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SPATA45
sanders_11_ASD_discovery_cases-13120.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SPATA45
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900398_900398
Unknown
RPL23AP18,PPP2R5A
krumm_15_ASD_discovery_controls-control11159.s1
Illumina 1M
Paternal
SPATA45
sanders_11_ASD_discovery_controls-11114.s1
Paternal
Simplex (quad)
NA
SPATA45
sanders_11_ASD_discovery_controls-11115.s1
Both parents
Simplex (quad)
NA
SPATA45
sanders_11_ASD_discovery_controls-11206.s1
Paternal
Simplex (quad)
NA
RPS6KC1
sanders_11_ASD_discovery_controls-11984.s1
Maternal
Simplex (quad)
NA
SPATA45
sanders_11_ASD_discovery_controls-12120.s1
Both parents
Simplex (quad)
NA
SPATA45
sanders_11_ASD_discovery_controls-12175.s1
Unknown
Simplex (quad)
NA
SPATA45
sanders_11_ASD_discovery_controls-12219.s1
Both parents
Simplex (quad)
NA
SPATA45
sanders_11_ASD_discovery_controls-12325.s1
Both parents
Simplex (quad)
NA
SPATA45
sanders_11_ASD_discovery_controls-12347.s1
Paternal
Simplex (quad)
NA
SPATA45
sanders_11_ASD_discovery_controls-12568.s1
Maternal
Simplex (quad)
NA
SPATA45
sanders_11_ASD_discovery_controls-12621.s1
Maternal
Simplex (quad)
NA
SPATA45
sanders_11_ASD_discovery_controls-12674.s1
Maternal
Simplex (quad)
NA
SPATA45
sanders_11_ASD_discovery_controls-12962.s1
Maternal
Simplex (quad)
NA
SPATA45
sanders_11_ASD_discovery_controls-12984.s1
Paternal
Simplex (quad)
NA
SPATA45
sanders_11_ASD_discovery_controls-13120.s1
Both parents
Simplex (quad)
NA
SPATA45
No Animal Model Data Available