9q21.33CNV Type: Deletion-Duplication
Largest CNV size: 101451 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
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
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
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
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
271809
1
1
2
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
47790
1
0
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
117810
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
55099
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
101451
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
87964
3
1
4
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
45980
0
1
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
981394
1
2
3
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
39919
1
0
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
44771
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
44771
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
198104
0
1
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
62386
1
0
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)
90386
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
193728
3
1
4
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
45980
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
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
FISH
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
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_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)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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-case20073_1337001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85496458
85768267
271810
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4395_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84621824
84660980
39157
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1346302
Autism
86962627
87010416
47790
Unknown
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case4
8 yrs.
F
Developmental delay/intellectual disability
Microcephaly, single transverse palmar crease, acrosyndactyly, microphthalmia, optic nerve atrophy, downslanting palpebral fissures. Karyotyping: r(11)(p15.5q24.1)
Developmental delay/intellectual disability
87452866
87570676
117811
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11047.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
85657434
85712533
55100
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11047.p1
NA
M
ASD
NA
NA
85656506
85757956
101451
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11047.p1
10.4
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
85670259
85758223
87965
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11630.p1
10.6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 106
84951392
84955089
3698
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12014.p1
6.3
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 107; verbal IQ, 133
84951392
84955997
4606
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
84944879
84953099
8221
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case367
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
86048556
86094535
45980
GRCh38
Duplication
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-controlB175984_1007852624
N/A
N/A
Control
No previous psychiatric history
84800113
85781507
981395
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB561892_1007853627
N/A
N/A
Control
No previous psychiatric history
84621824
84671000
49177
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900531_900531
N/A
N/A
Control
No previous psychiatric history
84447653
84558418
110766
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1797
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
89011328
89051246
39919
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11479.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11479. SRS score of 46.
86308428
86353199
44772
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11479.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
86308428
86353199
44772
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11479.s1
NA
F
Control
NA
NA
86306476
86504579
198104
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27574
Control
86960086
87022471
62386
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C31170A
N/A
F
Control
NIMH Control (NIMH ID 59702)
87639352
87729737
90386
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
84342294
84347291
4998
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11289.s1
8
M
Control (matched sibling)
NA
NA
84342294
84348609
6316
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11479.s1
4.2
F
Control (matched sibling)
NA
NA
86308371
86502099
193729
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13136.s1
4.3
F
Control (matched sibling)
NA
NA
86121528
86133467
11940
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-case20073_1337001
Unknown
AGTPBP1
engchuan_15_ASD_discovery_cases-case4395_1
Unknown
gai_11_ASD_discovery_cases-AU1346302
Inherited
0 genes
iourov_12_ASD/ID/EP_discovery_cases-case4
FISH
Unknown
Unknown
Unknown
DAPK1-IT1,DAPK1
krumm_15_ASD_discovery_cases-case11047.p1
Illumina 1M
Paternal
Simplex
Segregated
AGTPBP1
levy_11_ASD_discovery_cases-11047.p1
Paternal
Simplex
Segregated
AGTPBP1
sanders_11_ASD_discovery_cases-11047.p1
Paternal
Simplex (quad-proband matched)
Segregated
AGTPBP1
sanders_11_ASD_discovery_cases-11630.p1
Unknown
Simplex (quad-proband matched)
Segregated
NTRK2
sanders_11_ASD_discovery_cases-12014.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NTRK2
sanders_11_ASD_discovery_cases-13065.p1
Maternal
Simplex (trio)
NA
NTRK2
yin_16_ASD_discovery_cases-case367
Unknown
Unknown
Unknown
GOLM1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB175984_1007852624
Unknown
UBE2V1P10,STK33P1,AGTPBP1,NTRK2
engchuan_15_ASD_discovery_controls-controlB561892_1007853627
Unknown
NTRK2
engchuan_15_ASD_discovery_controls-controlHABC_900531_900531
Unknown
kanduri_15_ASD_discovery_controls-control_split1797
Unknown
Intergenic CNV: nearest genes, ZCCHC6(dist=41926),GAS1(dist=508031)
krumm_13_ASD_discovery_controls-control11479.s1
Paternal
Simplex
TUT7
krumm_15_ASD_discovery_controls-control11479.s1
Illumina 1M
Paternal
TUT7
levy_11_ASD_discovery_controls-11479.s1
Paternal
Simplex
NA
RNU2-36P,TUT7
nord_11_ASD_discovery_controls-04C27574
0 genes
poultney_13_ASD_discovery_controls-control04C31170A
Unknown
CTSL,DAPK1
sanders_11_ASD_discovery_controls-11033.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11289.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11479.s1
Paternal
Simplex (quad)
NA
RNU2-36P,TUT7
sanders_11_ASD_discovery_controls-13136.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available