9q21.11CNV Type: Deletion-Duplication
Largest CNV size: 207550 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
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-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
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
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
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
52361
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
492397
0
2
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
207550
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
130854
1
0
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)
200418
0
4
4
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
207330
6
7
13
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
32602
1
0
1
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
334824
0
5
5
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
6873
0
2
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
64564
1
1
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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)
242483
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.
18911
5
5
10
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
32602
0
0
0
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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-case3098_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69198655
69251016
52362
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case12101.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
69431326
69471695
40370
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14240.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68384397
68876794
492398
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-12101.p1
NA
M
ASD
NA
NA
69420052
69627601
207550
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0273-003
NA
M
ASD
NA
NA
70894761
71025614
130854
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case05HI4392A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1350303; NDAR ID NDAR_INVZY423BJU)
69247520
69447937
200418
GRCh37
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0029B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU012104; NDAR ID NDAR_INVNC573ATM)
69431325
69441117
9793
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0841A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU058504; NDAR ID NDAR_INVNN525TBD)
68378197
68391726
13530
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0962B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU046904; NDAR ID NDAR_INVYC474XP6)
41132226
41174354
42129
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11409.p1
4.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
69485135
69504046
18912
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11433.p1
13.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ, 96
69485135
69504046
18912
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11520.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 77; verbal IQ, 57
69476497
69504046
27550
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
69420931
69433561
12631
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11568.p1
13.5
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 28
69420931
69433561
12631
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11806.p1
4.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102
69423367
69433561
10195
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12026.p1
6.6
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36
69423367
69433561
10195
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
69485135
69504046
18912
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12097.p1
4.8
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 115; verbal IQ, 145
69485135
69504046
18912
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12101.p1
5.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 38
69420931
69628261
207331
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12103.p1
6.6
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
69420931
69433561
12631
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12390.p1
6.5
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 97; verbal IQ, 75
69420931
69433561
12631
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13077.p1
11.4
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
70506382
70700651
194270
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case366
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
68772147
68804748
32602
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-controlB972803_1007842434
N/A
N/A
Control
No previous psychiatric history
69685418
69758430
73013
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900081_900081
N/A
N/A
Control
No previous psychiatric history
69920697
70161748
241052
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900426_900426
N/A
N/A
Control
No previous psychiatric history
69915399
70156405
241007
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902590_902590
N/A
N/A
Control
No previous psychiatric history
69256874
69374684
117811
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902590_902590
N/A
N/A
Control
No previous psychiatric history
68913247
69248071
334825
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1055
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
72106629
72113501
6873
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1293
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
72106629
72113501
6873
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control14043.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
69371498
69377744
6247
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14240.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68465092
68529656
64565
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C28484A
N/A
F
Control
NIMH Control (NIMH ID 32596)
69206901
69447937
241037
GRCh37
Duplication
No
poultney_13_ASD_discovery_controls-control04C29765A
N/A
F
Control
NIMH Control (NIMH ID 14334)
69205455
69447937
242483
GRCh37
Deletion
No
poultney_13_ASD_discovery_controls-control05C43449A
N/A
M
Control
NIMH Control (NIMH ID 34352)
41132226
41174354
42129
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11289.s1
8
M
Control (matched sibling)
NA
NA
69485135
69504046
18912
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11447.s1
8.4
F
Control (matched sibling)
NA
NA
69420931
69433561
12631
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11520.s1
10.8
M
Control (matched sibling)
NA
NA
69485135
69504046
18912
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11881.s1
14.8
F
Control (matched sibling)
NA
NA
69420931
69433561
12631
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
69485135
69504046
18912
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12173.s1
4.1
M
Control (matched sibling)
NA
NA
69485135
69504046
18912
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12220.s1
16.1
M
Control (matched sibling)
NA
NA
69485135
69504046
18912
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12359.s1
6.3
F
Control (matched sibling)
NA
NA
69485135
69504046
18912
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12390.s1
4.3
M
Control (matched sibling)
NA
NA
69420931
69433561
12631
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
70192485
70198961
6477
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case3098_3
Unknown
TJP2
krumm_15_ASD_discovery_cases-case12101.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
APBA1
krumm_15_ASD_discovery_cases-case14240.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
TMEM252,LINC01506,FAM122A,PGM5,PIP5K1B
levy_11_ASD_discovery_cases-12101.p1
Maternal
Simplex
Segregated
APBA1
marshall_08_ASD_discovery_cases-SK0273-003
qPCR, qmPCR
Unknown
NA
NA
PIGUP1,TRPM3
poultney_13_ASD_discovery_cases-case05HI4392A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CBWD6,ANKRD20A4
poultney_13_ASD_discovery_cases-case98HI0029B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
APBA1
poultney_13_ASD_discovery_cases-case99HI0841A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PGM5
poultney_13_ASD_discovery_cases-case99HI0962B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
FRG1HP,CBWD6
sanders_11_ASD_discovery_cases-11409.p1
Paternal
Simplex (trio)
NA
APBA1
sanders_11_ASD_discovery_cases-11433.p1
Paternal
Simplex (quad-proband matched)
Segregated
APBA1
sanders_11_ASD_discovery_cases-11520.p1
Paternal
Simplex (quad-proband matched)
Not segregated
APBA1
sanders_11_ASD_discovery_cases-11567.p1
Maternal
Simplex (quad-proband matched)
Segregated
APBA1
sanders_11_ASD_discovery_cases-11568.p1
Paternal
Simplex (quad-proband matched)
Not segregated
APBA1
sanders_11_ASD_discovery_cases-11806.p1
Maternal
Simplex (trio)
NA
APBA1
sanders_11_ASD_discovery_cases-12026.p1
Maternal
Simplex (trio)
NA
APBA1
sanders_11_ASD_discovery_cases-12061.p1
Maternal
Simplex (quad-proband matched)
Not segregated
APBA1
sanders_11_ASD_discovery_cases-12097.p1
Maternal
Simplex (trio)
NA
APBA1
sanders_11_ASD_discovery_cases-12101.p1
Maternal
Simplex (quad-proband matched)
Not segregated
APBA1
sanders_11_ASD_discovery_cases-12103.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
APBA1
sanders_11_ASD_discovery_cases-12390.p1
Maternal
Simplex (quad-proband matched)
Not segregated
APBA1
sanders_11_ASD_discovery_cases-13077.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RN7SL726P,TRPM3
yin_16_ASD_discovery_cases-case366
Unknown
Unknown
Unknown
FAM122A,PIP5K1B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB972803_1007842434
Unknown
PTAR1
engchuan_15_ASD_discovery_controls-controlHABC_900081_900081
Unknown
MAMDC2-AS1,MAMDC2
engchuan_15_ASD_discovery_controls-controlHABC_900426_900426
Unknown
MAMDC2-AS1,MAMDC2
engchuan_15_ASD_discovery_controls-controlHABC_902590_902590
Unknown
BANCR,FAM189A2,TJP2
engchuan_15_ASD_discovery_controls-controlHABC_902590_902590
Unknown
RNU6-820P,PRKACG,PIP5K1B,FXN,TJP2
kanduri_15_ASD_discovery_controls-control_split1055
Unknown
APBA1 (intronic)
kanduri_15_ASD_discovery_controls-control_split1293
Unknown
APBA1 (intronic)
krumm_15_ASD_discovery_controls-control14043.s1
Omni2.5-4v1
Paternal
FAM189A2
krumm_15_ASD_discovery_controls-control14240.s1
Omni2.5-4v1
Paternal
PGM5
poultney_13_ASD_discovery_controls-control04C28484A
Unknown
CBWD6,ANKRD20A4
poultney_13_ASD_discovery_controls-control04C29765A
Unknown
CBWD6,ANKRD20A4
poultney_13_ASD_discovery_controls-control05C43449A
Unknown
FRG1HP,CBWD6
sanders_11_ASD_discovery_controls-11289.s1
Paternal
Simplex (quad)
NA
APBA1
sanders_11_ASD_discovery_controls-11447.s1
Paternal
Simplex (quad)
NA
APBA1
sanders_11_ASD_discovery_controls-11520.s1
Paternal
Simplex (quad)
NA
APBA1
sanders_11_ASD_discovery_controls-11881.s1
Maternal
Simplex (quad)
NA
APBA1
sanders_11_ASD_discovery_controls-12061.s1
Maternal
Simplex (quad)
NA
APBA1
sanders_11_ASD_discovery_controls-12173.s1
Paternal
Simplex (quad)
NA
APBA1
sanders_11_ASD_discovery_controls-12220.s1
Paternal
Simplex (quad)
NA
APBA1
sanders_11_ASD_discovery_controls-12359.s1
Paternal
Simplex (quad)
NA
APBA1
sanders_11_ASD_discovery_controls-12390.s1
Maternal
Simplex (quad)
NA
APBA1
sanders_11_ASD_discovery_controls-13183.s1
Paternal
Simplex (quad)
NA
MAMDC2,SMC5-AS1
No Animal Model Data Available