Xq21.32CNV Type: Deletion
Largest CNV size: 58539 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.
Deletion
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
549000
1
1
2
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
555980
1
3
4
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
58539
1
0
1
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
112754
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
43509
10
0
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
340733
1
2
3
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)
112754
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.
181587
19
2
21
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
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)
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
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
digregorio_17_DD/ID_discovery_cases-DECIPHER_299928
N/A
F
Developmental delay/intellectual disability
93122120
93671220
549101
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300040
N/A
M
Cognitive impairment and epilepsy/seizures
Bilateral cryptorchidism, congenital bilateral hip dislocation, seizures (CNV locus reported as Xq21.32-q21.33 in the report)
Cognitive impairment
93671161
94215237
544077
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13013_173
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93754027
93863746
109720
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14226_3600
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93302445
93461201
158757
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4161_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
92957167
93513147
555981
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5335_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93555823
93614361
58539
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5335_3
NA
M
Autism
Mental retardation
MR (IQ Leiter = 36)
93555823
93614361
58539
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case59640L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
92263575
92376328
112754
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11324.p1
11.4
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 34; verbal IQ, 21
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
94183035
94206440
23406
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
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12594.p1
8.3
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12597.p1
6.4
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 66
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12794.p1
8.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12827.p1
5.5
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
93716211
93759720
43510
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12827.p1
5.5
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
94148102
94148900
799
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
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13018.p1
12.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
94142154
94158623
16470
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-controlB557757_1007876032
N/A
N/A
Control
No previous psychiatric history
94045661
94331174
285514
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900099_900099
N/A
N/A
Control
No previous psychiatric history
94355251
94695984
340734
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901216_901216
N/A
N/A
Control
No previous psychiatric history
93713005
93985274
272270
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11017.s1
5.7
F
Control (matched sibling)
NA
NA
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11023.s1
10.4
F
Control (matched sibling)
NA
NA
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11324.s1
13
F
Control (matched sibling)
NA
NA
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11446.s1
11
F
Control (matched sibling)
NA
NA
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11463.s1
12.7
F
Control (matched sibling)
NA
NA
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11480.s1
13.8
F
Control (matched sibling)
NA
NA
94065758
94076440
10683
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
94148102
94167560
19459
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11627.s1
8.2
F
Control (matched sibling)
NA
NA
93716211
93761485
45275
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
94148102
94167560
19459
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11818.s1
14.3
F
Control (matched sibling)
NA
NA
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11845.s1
7.5
F
Control (matched sibling)
NA
NA
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12223.s1
10.9
F
Control (matched sibling)
NA
NA
93728494
93769938
41445
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12233.s1
6.8
F
Control (matched sibling)
NA
NA
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12339.s1
12.9
F
Control (matched sibling)
NA
NA
92938769
93120356
181588
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12540.s1
4.5
F
Control (matched sibling)
NA
NA
93728494
93761485
32992
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12597.s1
5.3
F
Control (matched sibling)
NA
NA
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
94148102
94192701
44600
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12794.s1
6.3
M
Control (matched sibling)
NA
NA
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13042.s1
4.2
F
Control (matched sibling)
NA
NA
94148102
94148900
799
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
94148102
94192701
44600
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
digregorio_17_DD/ID_discovery_cases-DECIPHER_299928
Paternal
ST13P18,RPL7P55,NAP1L3
digregorio_17_DD/ID_discovery_cases-DECIPHER_300040
qPCR
Maternal
NAP1L3,RNU6-332P,FAM133A
engchuan_15_ASD_discovery_cases-case13013_173
Unknown
engchuan_15_ASD_discovery_cases-case14226_3600
Unknown
engchuan_15_ASD_discovery_cases-case4161_1
Unknown
ST13P18
engchuan_15_ASD_discovery_cases-case5335_3
Unknown
RPL7P55
pinto_10_ASD_discovery_cases-case5335_3
Agilent1M
maternal
Simplex
NA
RPL7P55
prasad_12_ASD_discovery_cases-case59640L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11324.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11567.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12456.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12594.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12597.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12794.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12827.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12827.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12858.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13018.p1
Maternal
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB557757_1007876032
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900099_900099
Unknown
PAICSP7
engchuan_15_ASD_discovery_controls-controlHABC_901216_901216
Unknown
sanders_11_ASD_discovery_controls-11017.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11023.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11324.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11446.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11463.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11480.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11505.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11627.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11794.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11818.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11845.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12223.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12233.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12339.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12540.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12555.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12597.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12638.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12794.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13042.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13233.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available