18p11.3CNV Type: Duplication
Largest CNV size: 900000 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
Phenomic determinants of genomic variation in autism spectrum disorders.
Duplication
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
qiao_09_ASD_discovery_cases
Subjects with ASD: 31 from simplex families, 45 from immediate multiplex families (MPX-I; sharing an ASD with another family member via a 1st degree relationship), 24 from extended multiplex families (MPX-E; sharing an ASD with another family member via 2nd degree relationship)
100
ASD. Diagnosis based on DSM-IV-TR criteria using ADI-R and/or ADOS-G standards
Range, 2-40 yrs.
76% Male
900000
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
qiao_09_ASD_discovery_cases-case7
Range, 6-10
M
Autism
Phenotype Score: 4. Growth parameters: normal. Dysmorphic features: >2 craniofacial dysmorphisms. Seizures: none. Family history: multiplex extended (MPX-E; sharing an ASD with another family member via 2nd degree co-relationship).
Mild intellectual disability (IQ between 50 & 70)
5910725
6063460
900000
Unknown
Duplication
Yes
Controls
No Control Data Available
No Animal Model Data Available