6q22.1-q22.31CNV Type: Deletion
Largest CNV size: 5400000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 5.4-Mb deletion affecting the 6q22.1-q22.31 region was identified in a female ASD proband in Munnich et al., 2019.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
5400000
1
0
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
munnich_19_ASD_discovery_cases-case7
N/A
F
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
117677375
123059574
5382200
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
munnich_19_ASD_discovery_cases-case7
FISH
De novo
SSXP10,MIR548B,RNU6-194P,MIR3144,RNU6-214P,RNA5SP215,COX6A1P3,RNU6-1286P,RNU4-35P,RNU4-76P,RNU2-8P,SLC25A5P7,RPL23AP48,HMGB3P18,RNU1-18P,RN7SL564P,ATP5MGP2,PLN,SELENOKP3,ASF1A,GJA1,SERINC1,FABP7,SMPDL3A,CLVS2,NUS1,SLC35F1,MCM9,FAM184A,MAN1A1,TBC1D32,HSF2,CEP85L,PKIB
Controls
No Control Data Available
No Animal Model Data Available