21q22.2CNV Type: Deletion-Duplication
Largest CNV size: 39917 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
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
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
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
11239
1
0
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
111532
0
3
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
35611
N/A
N/A
2
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
23982
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
39917
0
1
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
260446
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
36328
2
4
6
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
33068
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
36328
0
3
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
2994
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
30636
0
1
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
126043
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.
123842
1
2
3
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
33068
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
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)
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
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)
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
brandler_18_ASD_replication_cases-caseSSC08424
N/A
M
ASD
Case from SSC_phase2 cohort
40074231
40085469
11239
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18178_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38744120
38780448
36329
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3451_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38744120
38780448
36329
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3514_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39005289
39116821
111533
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case12925.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
39312840
39348451
35612
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13626.p1
N/A
N/A
ASD
Proband from the Simons Simplex Collection (SSC). Family type:
40075036
40084008
8973
GRCh38
N/A
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0497
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
40253820
40277801
23982
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11596.p1
NA
M
ASD
NA
NA
38742214
38782130
39917
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_510
9 yrs.
F
Intellectual disability
Additional clinical information N/A
Intellectual disability
39646322
39906769
260448
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11572.p1
9.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 83; verbal IQ, 93
40647164
40658081
10918
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11962.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
38541223
38544832
3610
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12334.p1
8.9
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
38744120
38780448
36329
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12607.p1
5.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
38744120
38780448
36329
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12610.p1
5.4
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 71
38990876
39010116
19241
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12894.p1
6.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
38744120
38780448
36329
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case608
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
39165747
39198814
33068
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-controlB178414_0057061570
N/A
N/A
Control
No previous psychiatric history
38744120
38780448
36329
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB439994_1007852600
N/A
N/A
Control
No previous psychiatric history
38744120
38780448
36329
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB539168_1007853974
N/A
N/A
Control
No previous psychiatric history
38744120
38780448
36329
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split968
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
41790020
41793013
2994
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control12483.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
39898475
39929111
30637
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-12483.s1
NA
M
Control
NA
NA
39886215
40012255
126041
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11962.s1
7.8
M
Control (matched sibling)
NA
NA
38540543
38544832
4290
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12334.s1
4.2
M
Control (matched sibling)
NA
NA
38744120
38780448
36329
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12483.s1
12.7
M
Control (matched sibling)
NA
NA
39888016
40011856
123841
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseSSC08424
No validation step reported
De novo
DSCAM
engchuan_15_ASD_discovery_cases-case18178_302
Unknown
LINC00114
engchuan_15_ASD_discovery_cases-case3451_3
Unknown
LINC00114
engchuan_15_ASD_discovery_cases-case3514_3
Unknown
krumm_15_ASD_discovery_cases-case12925.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
BRWD1-AS2,HMGN1,BRWD1,BRWD1-AS1
krumm_15_ASD_discovery_cases-case13626.p1
aCGH
De novo
Simplex
Likely segregated
DSCAM
kushima_22_SCZ_discovery_cases-caseSCZ0497
qRT-PCR
Unknown
DSCAM
levy_11_ASD_discovery_cases-11596.p1
Maternal
Simplex
Segregated
LINC00114
quintela_17_DD/ID_discovery_cases-caseID_510
Unknown
Unknown
IGSF5,PCP4,B3GALT5
sanders_11_ASD_discovery_cases-11572.p1
Maternal
Simplex (quad-proband matched)
Segregated
DSCAM
sanders_11_ASD_discovery_cases-11962.p1
Paternal
Simplex (quad-proband matched)
Segregated
ERG
sanders_11_ASD_discovery_cases-12334.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00114
sanders_11_ASD_discovery_cases-12607.p1
Paternal
Simplex (trio)
NA
LINC00114
sanders_11_ASD_discovery_cases-12610.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12894.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00114
yin_16_ASD_discovery_cases-case608
Unknown
Unknown
Unknown
PCBP2P1,PSMG1,BRWD1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB178414_0057061570
Unknown
LINC00114
engchuan_15_ASD_discovery_controls-controlB439994_1007852600
Unknown
LINC00114
engchuan_15_ASD_discovery_controls-controlB539168_1007853974
Unknown
LINC00114
kanduri_15_ASD_discovery_controls-control_split968
Unknown
DSCAM (intronic)
krumm_15_ASD_discovery_controls-control12483.s1
Illumina 1MDuo
Paternal
PCP4
levy_11_ASD_discovery_controls-12483.s1
Paternal
Simplex
NA
PCP4,DSCAM
sanders_11_ASD_discovery_controls-11962.s1
Both parents
Simplex (quad)
NA
ERG
sanders_11_ASD_discovery_controls-12334.s1
Maternal
Simplex (quad)
NA
LINC00114
sanders_11_ASD_discovery_controls-12483.s1
Paternal
Simplex (quad)
NA
PCP4,DSCAM
No Animal Model Data Available