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13q32.2-q33.1CNV Type: Deletion


Largest CNV size: 200000 bp

Statistics Box:
Number of Reports: 1



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Phenomic determinants of genomic variation in autism spectrum disorders.
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
 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
 200000
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 qiao_09_ASD_discovery_cases
  NA
 aCGH
  BACs aCGH
 
 
 qPCR

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-case11
 Range, 2-5
 M
 Autism
 Phenotype Score: 8. Epilepsy. Growth parameters: Prenatal and postnatal growth retardation, macrocephaly (OFC >98th %ile). Dysmorphic features: >2 craniofacial dysmorphisms. Other: >2 systemic congenital anomalies.
 Severe intellectual disability (IQ between 20 & 35)
 100477931
 100637276
  200000
 
 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
 qiao_09_ASD_discovery_cases-case11
 qPCR
 
 Paternal
 Simplex
 
 NALCN
 

Controls

No Control Data Available
No Animal Model Data Available
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