6p12CNV Type: Deletion
Largest CNV size: 157321 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
CNVs at this locus include at least part of the KIAA1586 gene. However, precise breakpoints for CNVs at this locus were not provided.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
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
bucan_09_ASD_discovery_cases
Individuals from 912 multiplex families (AGRE cohort)
3832
ASD
157321
3
0
3
bucan_09_ASD_replication_cases
Unrelated ASD patients (ACC cohort). 54% simplex, 46% multiplex
859
828 diagnosed with autism, 31 with other ASDs
Range, 2-21
81.8% Male
67160
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bucan_09_ASD_discovery_controls
1070 healthy children (CHOP), 418 neurologically normal adults and seniors (NINDS control collection)
1488
Controls
157321
0
0
0
bucan_09_ASD_replication_controls
Children of Caucasian ancestry with no history of ASDs (CHOP)
1051
Controls
157321
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bucan_09_ASD_discovery_cases
Solid phase hybridization
HumanHap550 V3
Penn CNV
qPCR
bucan_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bucan_09_ASD_discovery_controls
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
bucan_09_ASD_replication_controls
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bucan_09_ASD_discovery_cases-patient18
NA
ASD
NA
NA
36354
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient19
NA
ASD
NA
NA
36902
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient20
NA
ASD
NA
NA
157321
Unknown
Deletion
Yes
bucan_09_ASD_replication_cases-patient10
NA
ASD
NA
NA
67160
Unknown
Deletion
Yes
bucan_09_ASD_replication_cases-patient9
NA
ASD
NA
NA
36901
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
bucan_09_ASD_discovery_cases-patient18
qPCR
Unknown
NA
NA
KIAA1586
bucan_09_ASD_discovery_cases-patient19
qPCR
Unknown
NA
NA
KIAA1586
bucan_09_ASD_discovery_cases-patient20
qPCR
Unknown
NA
NA
KIAA1586
bucan_09_ASD_replication_cases-patient10
qPCR
Unknown
NA
NA
KIAA1586
bucan_09_ASD_replication_cases-patient9
qPCR
Unknown
NA
NA
KIAA1586
Controls
No Control Data Available
No Animal Model Data Available