4q31.3-q33CNV Type: Deletion
Largest CNV size: 18813173 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
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental 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
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
18813173
1
0
1
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
rosenfeld_10_ASD_discovery_cases-case23771
NA
NA
ASD
NA
NA
154119050
172932223
18813173
Unknown
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
rosenfeld_10_ASD_discovery_cases-case23771
FISH
De novo
Unknown
Unknown
FHDC1,TRIM2,MND1,KIAA0922,TLR2,RNF175,SFRP2,DCHS2,PLRG1,FGB,FGA,FGG,LRAT,RBM46,NPY2R,MAP9,GUCY1A3,GUCY1B3,ACCN5,TDO2,CTSO,PDGFC,GLRB,GRIA2,FAM198B,TMEM144,RXFP1,C4orf46,ETFDH,PPID,FNIP2,C4orf45,RAPGEF2,FSTL5,NAF1,NPY1R,NPY5R,TKTL2,C4orf43,MARCH1,ANP32C,TRIM61,C4orf39,TRIM60,TMEM192,KLHL2,MSMO1,CPE,TLL1,SPOCK3,ANXA10,DDX60,DDX60L,PALLD,CBR4,SH3RF1,NEK1,CLCN3,C4orf27,MFAP3L,AADAT
Controls
No Control Data Available
No Animal Model Data Available