9p21.1-p11.2CNV Type: Duplication
Largest CNV size: 1650000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A duplication within this loci was identified in a Greek ASD proband who also presented with hyperactivity (Oikonomakis et al., 2016).
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
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
165000
0
1
1
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
oikonomakis_16_ASD_discovery_cases-case615
1 yr.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hyperactivity
40529065
67217006
26687942
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
oikonomakis_16_ASD_discovery_cases-case615
Unknown
IGKV1OR9-2,RNU6-156P,MIR1299,FOXD4L6,MIR4477A,RNA5SP530,CDK2AP2P1,MYO5BP1,RN7SL565P,RBM17P3,RN7SL343P,FAM74A7,SDR42E1P2,ATP5F1AP1,RAB28P3,RBPJP6,FGF7P5,FGF7P4,ADGRF5P2,MEP1AP4,RNU6-599P,SNX18P5,CYP4F60P,CNN2P4,RN7SL462P,RN7SL722P,FAM27C,FAM242E,RN7SL544P,FGF7P7,CNTNAP3P5,RBPJP7,RAB28P2,ATP5F1AP7,SDR42E1P3,FKBP4P7,LINC01410,RNA5SP283,PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1,FGF7P8,BMS1P9,MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,RNU6-1193P,SNX18P9,CYP4F25P,CNN2P3,GXYLT1P6,BMS1P11,IGKV1OR-2,BNIP3P4,RNU6-1293P,IGKV1OR9-1,FOXD4L5,FOXD4L4,IGKV1OR-3,SNX18P4,RNU6-538P,RBPJP2,RAB28P4,ATP5F1AP10,SDR42E1P4,FKBP4P8,FAM74A3,SPATA31A3,RN7SL422P,RBM17P2,BMS1P14,SPATA31A6,FKBP4P6,GXYLT1P5,SPATA31A5,FAM74A6,SPATA31A7,FAM242D,CNTNAP3P1,AQP7P4,AQP7P1,FRG1JP,ANKRD20A4,AQP7P2,BMS1P12,CBWD4P,FRG1KP,CBWD5,BMS1P13,AQP7P3,GXYLT1P4,ANKRD20A3,ZNF658,FRG1HP,PGM5P2,CBWD6,FAM242F,ANKRD20A7P,FAM74A4,CNTNAP3C,FGF7P6,LINC01189,BMS1P10,CNTNAP3B,CNTNAP3P2
Controls
No Control Data Available
No Animal Model Data Available