Xp11.1CNV Type: Deletion-Duplication
Largest CNV size: 226211 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
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-Duplication
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
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
beunders_13_DD/ID/ASD_discovery_cases
Individuals from ten diagnostic centers in the Netherlands, Belgium, Great Britian, the United States, and Canada
49684
Intellectual disability and/or mulitple congenital anomalies
NA
NA
301941
0
1
1
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
350575
0
1
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
226211
10
7
17
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
42769
1
0
1
beunders_13_DD/ID/ASD_discovery_controls
Control cohort comprised of Ottawa Heart Institute (OHI) controls from Canada (n=1234), POPGEN controls from Germany (n=1123), SAGE controls from the United States (n=1287), Welcome Trust (WTCCC) controls (n=4783), HapMap Phase 3 controls (n=1056), Lowlands Consortium controls (n=981), and a combined adult controls set (HGDP, NINDS, and others; n=6239)
16784
Control
NA
NA
301941
NA
NA
NA
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
97897
1
2
3
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
237811
7
14
21
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
beunders_13_DD/ID/ASD_discovery_cases
NA
aCGH, array SNP, solid phase hybridization
Multiple platforms including Agilent 105K/180K/244K, custom Roche Nimblegen 135K, Affymetrix 2.7M/6.0, Illumina Omni 2.5M, SignatureChipOS v2.0, & BlueGnome CytoChip ISCA 60K
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
beunders_13_DD/ID/ASD_discovery_controls
NA
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Illumina 240K-650K, Agilent 105K/185K
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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
beunders_13_DD/ID/ASD_discovery_cases-case35
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
57313358
57615299
301942
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1347_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57574965
57925539
350575
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11264.p1
10.7
F
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 88; verbal IQ 80
58405466
58442212
36747
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11277.p1
10.2
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
58405466
58539323
133858
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11277.p1
10.2
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
57690547
57705386
14840
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11324.p1
11.4
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 34; verbal IQ, 21
58170062
58172998
2937
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11598.p1
5.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
56925030
56929603
4574
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11734.p1
13.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
58455891
58496145
40255
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11869.p1
10.1
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
58061502
58074194
12693
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11872.p1
7.8
F
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 65; verbal IQ, 67
58313112
58539323
226212
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11905.p1
11.2
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 71; verbal IQ, 34
57690547
57705386
14840
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11913.p1
4.5
F
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 99; verbal IQ, 105
58405466
58496145
90680
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
58506044
58539323
33280
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12192.p1
6.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 130; verbal IQ, 115
57656191
57668948
12758
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
57751148
57843549
92402
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
56925030
56929603
4574
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13039.p1
6.3
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
57741447
57877869
136423
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
56925030
56929603
4574
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13367.p1
9.7
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
58415630
58442212
26583
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
bacchelli_20_ASD_discovery_controls-control10505
N/A
F
Control
Control
22975100
23017868
42769
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900651_900651
N/A
N/A
Control
No previous psychiatric history
57135423
57177751
42329
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900651_900651
N/A
N/A
Control
No previous psychiatric history
56826540
56913418
86879
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902762_902762
N/A
N/A
Control
No previous psychiatric history
57732094
57829991
97898
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11067.s1
16.7
F
Control (matched sibling)
NA
NA
58420345
58539323
118979
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11161.s1
9.3
F
Control (matched sibling)
NA
NA
58405466
58539323
133858
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11277.s1
7.2
F
Control (matched sibling)
NA
NA
58338200
58539323
201124
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11324.s1
13
F
Control (matched sibling)
NA
NA
58168217
58177068
8852
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11601.s1
9.3
F
Control (matched sibling)
NA
NA
58458095
58496145
38051
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11620.s1
15.1
F
Control (matched sibling)
NA
NA
58405466
58539323
133858
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11645.s1
11.2
F
Control (matched sibling)
NA
NA
58420345
58496145
75801
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11677.s1
11.8
F
Control (matched sibling)
NA
NA
58405466
58539323
133858
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11872.s1
6
F
Control (matched sibling)
NA
NA
58301512
58539323
237812
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11892.s1
9.1
F
Control (matched sibling)
NA
NA
58383317
58539323
156007
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11905.s1
8.6
F
Control (matched sibling)
NA
NA
57695649
57705386
9738
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12073.s1
7.3
F
Control (matched sibling)
NA
NA
58405466
58496145
90680
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
56925030
56933062
8033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12120.s1
7.8
F
Control (matched sibling)
NA
NA
57699699
57719938
20240
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12231.s1
12.3
F
Control (matched sibling)
NA
NA
58458095
58496145
38051
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12233.s1
6.8
F
Control (matched sibling)
NA
NA
58338200
58383317
45118
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12340.s1
10.3
F
Control (matched sibling)
NA
NA
58458095
58539323
81229
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12375.s1
7.5
F
Control (matched sibling)
NA
NA
58458095
58496145
38051
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
56925030
56933062
8033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12989.s1
11.4
F
Control (matched sibling)
NA
NA
58458095
58496145
38051
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13039.s1
4.5
M
Control (matched sibling)
NA
NA
57741447
57877869
136423
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
beunders_13_DD/ID/ASD_discovery_cases-case35
Maternal
Unknown
Unknown
ZXDB,MTHFD1P1,FAAH2
engchuan_15_ASD_discovery_cases-case1347_301
Unknown
ZXDB,NLRP2B,ZXDA
sanders_11_ASD_discovery_cases-11264.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11277.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11277.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11324.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11598.p1
Maternal
Simplex (trio)
NA
SPIN3
sanders_11_ASD_discovery_cases-11734.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11869.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11872.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11905.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11913.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12184.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12192.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12858.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12972.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SPIN3
sanders_11_ASD_discovery_cases-13039.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13183.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SPIN3
sanders_11_ASD_discovery_cases-13367.p1
Paternal
Simplex (trio)
NA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10505
Unknown
DDX53
engchuan_15_ASD_discovery_controls-controlHABC_900651_900651
Unknown
SPIN2A
engchuan_15_ASD_discovery_controls-controlHABC_900651_900651
Unknown
SPIN3
engchuan_15_ASD_discovery_controls-controlHABC_902762_902762
Unknown
sanders_11_ASD_discovery_controls-11067.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11161.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11277.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11324.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11601.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11620.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11645.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11677.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11872.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11892.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11905.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12073.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12117.s1
Both parents
Simplex (quad)
NA
SPIN3
sanders_11_ASD_discovery_controls-12120.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12231.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12233.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12340.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12375.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12972.s1
Both parents
Simplex (quad)
NA
SPIN3
sanders_11_ASD_discovery_controls-12989.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13039.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available