7p12.3-p12.2CNV Type: Duplication
Largest CNV size: 1219700 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
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
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
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
1219700
0
2
2
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
szatmari_07_ASD_discovery_cases-NAAR063-F2-HI1522
NA
ASD
NA
NA
49702643
50897294
1194652
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR063-F4-HI1524
NA
ASD
NA
NA
49702643
50230043
527401
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
wang_10_ASD_discovery_controls-Aut203
20
F
Control
NA
NA
48990724
49869855
879132
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
szatmari_07_ASD_discovery_cases-NAAR063-F2-HI1522
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
GNL2P1,RNU6-1091P,DDC-AS1,SPATA48,VWC2,ZPBP,FIGNL1,DDC,GRB10,IKZF1
szatmari_07_ASD_discovery_cases-NAAR063-F4-HI1524
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
GNL2P1,SPATA48,VWC2,ZPBP
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
wang_10_ASD_discovery_controls-Aut203
Unknown
NA
NA
DDX43P2,VWC2,ZPBP
No Animal Model Data Available