2q36.2-q36.3CNV Type: Deletion
Largest CNV size: 1877000 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
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
1877000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
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
nava_13_ASD_discovery_cases-Fam625Proband7374
14 yrs. 10 mos.
M
ASD
Developmental milestones: age of walking of 19 months. Language and communication evaluation: has language. Epilepsy/seizures: yes (temporal myoclonus). Other features: Marfanoid. Dysmorphic features: prognatism, short philtrum, small mouth, everted lower lip. Growth parameters: height and head circumference within normal range, weight -1 SD. Patient also carries paternally-inherited missense variant in DOCK10 gene.
ID (moderate)
224614013
226491259
1877247
GRCh38
Deletion
No
Controls
No Control Data Available
No Animal Model Data Available