11q13CNV Type: Deletion
Largest CNV size: 159861 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
CNVs at this locus include at least part of the SSSCA1 and FAM89B genes. 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
21993
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
123569
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
21993
0
0
0
bucan_09_ASD_replication_controls
Children of Caucasian ancestry with no history of ASDs (CHOP)
1051
Controls
21993
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-patient24
NA
ASD
NA
NA
21993
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient25
NA
ASD
NA
NA
21993
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient26
NA
ASD
NA
NA
21933
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient27
NA
ASD
NA
NA
11410
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient28
NA
ASD
NA
NA
19223
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient29
NA
ASD
NA
NA
84727
Unknown
Deletion
Yes
bucan_09_ASD_replication_cases-patient12
NA
ASD
NA
NA
123569
Unknown
Deletion
Yes
bucan_09_ASD_replication_cases-patient13
NA
ASD
NA
NA
159861
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-patient24
qPCR
Unknown
NA
NA
SSSCA1, FAM89B
bucan_09_ASD_discovery_cases-patient25
qPCR
Unknown
NA
NA
SSSCA1, FAM89B
bucan_09_ASD_discovery_cases-patient26
qPCR
Unknown
NA
NA
SSSCA1, FAM89B
bucan_09_ASD_discovery_cases-patient27
qPCR
Unknown
NA
NA
SSSCA1, FAM89B
bucan_09_ASD_discovery_cases-patient28
qPCR
Unknown
NA
NA
SSSCA1, FAM89B
bucan_09_ASD_discovery_cases-patient29
qPCR
Unknown
NA
NA
SSSCA1, FAM89B
bucan_09_ASD_replication_cases-patient12
qPCR
Unknown
NA
NA
SSSCA1, FAM89B
bucan_09_ASD_replication_cases-patient13
qPCR
Unknown
NA
NA
SSSCA1, FAM89B
Controls
No Control Data Available
No Animal Model Data Available