2q22.2CNV Type: Deletion
Largest CNV size: 161502 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
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
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
468092
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
280000
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
379961
2
2
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
161502
6
0
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
77024
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
468092
1
0
1
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)
379961
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.
13544
3
0
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
77024
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
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
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
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
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
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
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-caseSSC11440
N/A
M
ASD
Case from SSC_phase2 cohort
142095202
142563293
468092
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown138
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
141810368
142086270
275903
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case120040
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
144601181
144613523
12343
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case142468
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
143888382
143916068
27687
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case50172L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
143887081
143956653
69573
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case99746
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
143119563
143499523
379961
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11220.p1
12.1
F
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
144126348
144139892
13545
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11390.p1
8.3
F
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 77; verbal IQ, 57
142080323
142241825
161503
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11394.p1
5.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
143948481
143960439
11959
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11888.p1
4
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 75
143435414
143452394
16981
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12540.p1
6.9
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
142649742
142656243
6502
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12964.p1
6.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
143435414
143452394
16981
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case85
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
141585130
141662153
77024
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
brandler_18_ASD_replication_controls-controlSSC11455
N/A
M
control
Control from SSC_phase2 cohort
142095202
142563293
468092
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11220.s1
13.6
F
Control (matched sibling)
NA
NA
144126348
144139892
13545
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12540.s1
4.5
F
Control (matched sibling)
NA
NA
142649742
142656243
6502
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12655.s1
18.3
M
Control (matched sibling)
NA
NA
142554161
142563246
9086
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseSSC11440
No validation step reported
Maternal
UBE2V1P14,LRP1B
maini_18_ASD/DD/ID_discovery_cases-case_unknown138
Maternal
Unknown
Unknown
LRP1B
prasad_12_ASD_discovery_cases-case120040
Unknown
Unknown
Unknown
GTDC1
prasad_12_ASD_discovery_cases-case142468
Unknown
Unknown
Unknown
ARHGAP15
prasad_12_ASD_discovery_cases-case50172L
Unknown
Unknown
Unknown
ARHGAP15
prasad_12_ASD_discovery_cases-case99746
Unknown
Unknown
Unknown
KYNU
sanders_11_ASD_discovery_cases-11220.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GTDC1
sanders_11_ASD_discovery_cases-11390.p1
Unknown
Simplex (quad-proband matched)
Segregated
LRP1B
sanders_11_ASD_discovery_cases-11394.p1
Unknown
Simplex (trio)
NA
GTDC1
sanders_11_ASD_discovery_cases-11888.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ARHGAP15
sanders_11_ASD_discovery_cases-12540.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12964.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ARHGAP15
yin_16_ASD_discovery_cases-case85
Unknown
Unknown
Unknown
LRP1B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC11455
No validation step reported
Maternal
UBE2V1P14,LRP1B
sanders_11_ASD_discovery_controls-11220.s1
Paternal
Simplex (quad)
NA
GTDC1
sanders_11_ASD_discovery_controls-12540.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12655.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available