2q22.3CNV Type: Deletion
Largest CNV size: 74840 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
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
477574
1
1
2
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
74840
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
227923
1
1
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1800000
2
0
2
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
1364652
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
115606
4
0
4
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
1042307
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
3413
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
engchuan_15_ASD_discovery_cases-case13027_353
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
144363772
144841346
477575
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case16037_1571015001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146853682
146920814
67133
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU072504
Autism
146696583
146771422
74840
Unknown
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000920
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
144500115
144728038
227924
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002127
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
144461848
144665266
203419
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU2125302
N/A
M
ASD
144968433
146722432
1754000
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU2125303
N/A
M
ASD
144968433
146722432
1754000
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_590
2 yrs.
M
ASD and developmental delay
ASD
Global developmental delay
144673297
146037947
1364651
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-control110036022275_
N/A
N/A
Control
No previous psychiatric history
145337502
145420620
83119
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB513284_1007840737
N/A
N/A
Control
No previous psychiatric history
146853682
146920814
67133
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901195_901195
N/A
N/A
Control
No previous psychiatric history
145820382
145935988
115607
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902465_903003
N/A
N/A
Control
No previous psychiatric history
146853682
146920814
67133
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_318
NA
NA
Control
NA
NA
145852757
146895064
1042308
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11304.s1
8.3
F
Control (matched sibling)
NA
NA
145500314
145503727
3414
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-case13027_353
De novo
ZEB2-AS1,ZEB2,LINC01412,TEX41
engchuan_15_ASD_discovery_cases-case16037_1571015001
Unknown
gai_11_ASD_replication_cases-AU072504
Inherited
0 genes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000920
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ZEB2-AS1,ZEB2,LINC01412,TEX41
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002127
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ZEB2-AS1,ZEB2,LINC01412
leppa_16_ASD_discovery_cases-AU2125302
Maternal
Multiplex
Segregated (CNV present in both affected siblings)
RPL6P5,RNU7-2P,RPL17P12,PABPC1P2,TEX41
leppa_16_ASD_discovery_cases-AU2125303
Maternal
Multiplex
Segregated (CNV present in both affected siblings)
RPL6P5,RNU7-2P,RPL17P12,PABPC1P2,TEX41
quintela_17_DD/ID_discovery_cases-caseID_590
Unknown
Unknown
LINC01966,RPL6P5,TEX41
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036022275_
Unknown
RPL6P5
engchuan_15_ASD_discovery_controls-controlB513284_1007840737
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901195_901195
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902465_903003
Unknown
girirajan_11_ASD_discovery_controls-NIMH_318
Unknown
RNU7-2P,RPL17P12,PABPC1P2,LINC01911
sanders_11_ASD_discovery_controls-11304.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available