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13q14.11-q14.12CNV Type: Deletion


Largest CNV size: 2025540 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
De novo rates and selection of large copy number variation.
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
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 2025540
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)

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
  itsara_10_ASD_discovery_cases-HI0120
 NA
 NA
 Autism
 NA
 NA
 44187357
 46212897
  2025540
 UCSC Build36
 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
 itsara_10_ASD_discovery_cases-HI0120
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 LOC144817,NUFIP1,KIAA1704,GTF2F2,KCTD4,TPT1,SNORA31,LOC100190939,SLC25A30,COG3,FAM194B,SPERT,SIAH3,ZC3H13,CPB2,LCP1,KIAA0226L,LRCH1
 

Controls

No Control Data Available
No Animal Model Data Available
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