1q22-q23.1CNV Type: Duplication
Largest CNV size: 99535 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
A duplication of unknown origin within this region was identified in an ASD proband from the Autism Genome Project (Engchuan et al., 2015).
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
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
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
99535
0
1
1
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
14432
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
256072
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
0
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
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
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-case8668_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
156480927
156580462
99536
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0012262
N/A
M
ASD
Family history: father presents with anxiety.
156526486
156540917
14432
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseF14
3 yrs.
M
ASD
156469207
156725278
256072
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case8668_201
Unknown
IQGAP3,TTC24,MEF2D
feliciano_19_ASD_discovery_cases-caseSP0012262
Paternal
IQGAP3
null
han_22_ASD/DD/ID_discovery_cases-caseF14
Unknown
CRABP2,GPATCH4,HAPLN2,BCAN,ISG20L2,NAXE,IQGAP3,TTC24,MEF2D,BCAN-AS1,NES
Controls
No Control Data Available
No Animal Model Data Available