17q23.1CNV Type: Deletion
Largest CNV size: 60098 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
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
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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)
10831
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
60098
4
0
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
144454
0
1
1
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
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
58527
7
0
7
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
poultney_13_ASD_discovery_cases-case98HI0266B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU017504; NDAR ID NDAR_INVWK082CR2)
59930115
59940945
10831
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12415.p1
12.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 89
60044092
60095086
50995
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12670.p1
10.5
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
60044092
60074524
30433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12858.p1
4.2
F
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
60036209
60095086
58878
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
60044092
60104190
60099
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_900578_900578
N/A
N/A
Control
No previous psychiatric history
59470874
59615328
144455
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12224.s1
6
M
Control (matched sibling)
NA
NA
60044092
60095086
50995
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12457.s1
5.6
M
Control (matched sibling)
NA
NA
60040068
60095086
55019
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12661.s1
11.2
F
Control (matched sibling)
NA
NA
60078703
60095086
16384
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12701.s1
10.4
M
Control (matched sibling)
NA
NA
60079066
60095086
16021
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
60036559
60095086
58528
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
60044092
60095086
50995
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13093.s1
16.2
F
Control (matched sibling)
NA
NA
60033163
60063592
30430
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
poultney_13_ASD_discovery_cases-case98HI0266B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RPS6KB1
sanders_11_ASD_discovery_cases-12415.p1
Unknown
Simplex (quad-proband matched)
Not segregated
WFDC21P,HEATR6
sanders_11_ASD_discovery_cases-12670.p1
Unknown
Simplex (trio)
NA
HEATR6
sanders_11_ASD_discovery_cases-12858.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MIR4737,WFDC21P,HEATR6
sanders_11_ASD_discovery_cases-12972.p1
Unknown
Simplex (quad-proband matched)
Not segregated
WFDC21P,HEATR6
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900578_900578
Unknown
RNU4-13P,DHX40,LINC01476
sanders_11_ASD_discovery_controls-12224.s1
Unknown
Simplex (quad)
NA
WFDC21P,HEATR6
sanders_11_ASD_discovery_controls-12457.s1
Unknown
Simplex (quad)
NA
MIR4737,WFDC21P,HEATR6
sanders_11_ASD_discovery_controls-12661.s1
Maternal
Simplex (quad)
NA
WFDC21P,HEATR6
sanders_11_ASD_discovery_controls-12701.s1
Unknown
Simplex (quad)
NA
WFDC21P
sanders_11_ASD_discovery_controls-12972.s1
Unknown
Simplex (quad)
NA
MIR4737,WFDC21P,HEATR6
sanders_11_ASD_discovery_controls-13076.s1
Paternal
Simplex (quad)
NA
WFDC21P,HEATR6
sanders_11_ASD_discovery_controls-13093.s1
Unknown
Simplex (quad)
NA
MIR4737,HEATR6
No Animal Model Data Available