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13q14.12-q14.2CNV Type: Deletion


Largest CNV size: 2051000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A de novo deletion in the 13q14.12-q14.2 region was identified in an ASD proband from a multiplex family (Leppa et al., 2016).

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
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
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 2051000
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 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
  leppa_16_ASD_discovery_cases-AU010604
 N/A
 M
 ASD
 
 
 45263685
 47314896
  2051000
 GRCh37/hg19
 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
 leppa_16_ASD_discovery_cases-AU010604
 qPCR
 
 De novo
 Multiplex
 Not segregated
 NUFIP1,GPALPP1,GTF2F2,KCTD4,TPT1,SLC25A30,COG3,ERICH6B,SPERT,SIAH3,ZC3H13,CPB2,LCP1,LRRC63,RUBCNL,LRCH1
 

Controls

No Control Data Available
No Animal Model Data Available
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