8pter-p23.2CNV Type: Deletion
Largest CNV size: 2400000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Identification and molecular characterization of two novel chromosomal deletions associated with autism.
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
chien_10_ASD_discovery_cases
ASD patients from Chang Gung Memorial Hospital & National Taiwan University Hospital
44
ASD
Mean, 8.0 3.8
90.9% Male
2400000
1
0
1
chien_10_ASD_replication_cases
ASD patients from Taiwan
282
ASD
2400000
0
0
0
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chien_10_ASD_discovery_controls
Unaffected controls from Taiwan
300
Controls
2400000
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chien_10_ASD_discovery_cases
Chinese
aCGH
Nimble HD2
FISH, qPCR
chien_10_ASD_replication_cases
Chinese
aCGH
Nimble HD2
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chien_10_ASD_discovery_controls
Chinese
aCGH
Nimble HD2
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chien_10_ASD_discovery_cases-patient2
12
M
ASD
Seizures, severe mental retardation, lack of social reciprocity, restricted/stereotyped behaviors
N/A
0
2400000
2400000
NCBI36
Deletion
Yes
Controls
No Control Data Available
No Animal Model Data Available