13q14.12-q14.2CNV Type: Deletion
Largest CNV size: 2051000 bp
Statistics Box:
Number of Reports: 1
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
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
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
LINC00330,RN7SL49P,RN7SKP3,RN7SKP4,KCTD4,SNORA31,RCN1P2,SLC25A30-AS1,PPIAP25,RNA5SP27,TIMM9P3,COX4I1P2,AKR1B1P4,RN7SL288P,RN7SKP5,FAM206BP,LINC00563,RNU2-6P,RNU6-68P,PPP1R2P4,OR7E101P,COX17P1,FKBP1AP3,GPALPP1,TPT1,SLC25A30,LINC01055,SPERT,SIAH3,CPB2-AS1,CPB2,LINC01198,LINC00407,NUFIP1,GTF2F2,TPT1-AS1,COG3,ERICH6B,ZC3H13,LRRC63,RUBCNL,LRCH1,LCP1
Controls
No Control Data Available
No Animal Model Data Available