16q23.2-q24.3CNV Type: Duplication
Largest CNV size: 10854223 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A 16q23.2-q24.3 duplication of unknown origin was identified in a Chinese ASD proband (Yingjun et al., 2017).
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
Copy Number Variations independently induce Autism Spectrum Disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
10854223
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
yingjun_17_ASD_discovery_cases-case7714
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
79247683
90088654
10840972
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
yingjun_17_ASD_discovery_cases-case7714
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
RNA5SP431,LINC01227,ATMIN,RNU6-1191P,MIR4720,PPIAP51,MIR7854,MIR6504,RN7SKP176,MTCYBP28,RN7SKP190,MIR8058,RN7SL134P,MIR3182,HSBP1,RNA5SP432,ADAD2,COX6CP16,LINC00311,MIR5093,RN7SL381P,MIR1910,RNU1-103P,MIR6774,LINC02132,LINC02135,FOXF1,FOXC2-AS1,FOXC2,FOXL1,LINC02189,LINC02181,ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,RPL13,SNORD68,SPATA2L,VPS9D1-AS1,CENPBD1,GAS8-AS1,MAF,MAFTRR,DYNLRB2,CENPN,C16orf46,GCSH,GAN,SDR42E1,MPHOSPH6,MLYCD,OSGIN1,NECAB2,MBTPS1,HSDL1,TAF1C,KCNG4,RNA5SP433,WFDC1,ATP2C2-AS1,COTL1,KLHL36,USP10,CRISPLD2,ZDHHC7,FAM92B,LINC02139,GINS2,EMC8,COX4I1,IRF8,LINC01082,LINC00917,MTHFSD,FLJ30679,LINC02188,FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,CA5A,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,CPNE7,DPEP1,SPATA33,CDK10,LINC02166,VPS9D1,ZNF276,SPIRE2,TCF25,TUBB3,DEF8,AFG3L1P,DBNDD1,GAS8,PRDM7,LINC01228,ARLNC1,CMC2,PKD1L2,BCO1,CMIP,HSD17B2,SLC38A8,DNAAF1,ATP2C2,KIAA0513,GSE1,C16orf74,LINC01081,FENDRR,C16orf95,ZCCHC14,JPH3,BANP,ZFPM1,ZC3H18,PIEZO1,ANKRD11,SPG7,CHMP1A,FANCA,MC1R,URAHP,LINC01229,CDYL2,PLCG2,CDH13,LINC02176,ACSF3
Controls
No Control Data Available
No Animal Model Data Available