6p11.2-q11.1CNV Type: Duplication
Largest CNV size: 5332328 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
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
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
5332328
0
4
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
5489086
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
girirajan_13a_ASD_discovery_cases-11756.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
57788605
61119912
3331308
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-12296.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
57788605
61482136
3693532
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-12430.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
57788605
61732949
3944345
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13521.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
57788605
62207508
4418904
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13036.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
57788605
62177312
4388708
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13a_ASD_discovery_cases-11756.p1
Unknown
Simplex
Unknown
GUSBP4,POM121L14P,GAPDHP15,RBBP4P4,GAPDHP41,RBBP4P3,LINC00680,LINC00680-GUSBP4
girirajan_13a_ASD_discovery_cases-12296.p1
Unknown
Simplex
Unknown
GUSBP4,POM121L14P,GAPDHP15,RBBP4P4,GAPDHP41,RBBP4P3,LINC00680,LINC00680-GUSBP4
girirajan_13a_ASD_discovery_cases-12430.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
GUSBP4,POM121L14P,GAPDHP15,RBBP4P4,GAPDHP41,RBBP4P3,MTRNR2L9,LINC00680,KHDRBS2-OT,LINC00680-GUSBP4,KHDRBS2
girirajan_13a_ASD_discovery_cases-13521.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
GUSBP4,POM121L14P,GAPDHP15,RBBP4P4,GAPDHP41,RBBP4P3,MTRNR2L9,LINC00680,KHDRBS2-OT,LINC00680-GUSBP4,KHDRBS2
krumm_15_ASD_discovery_cases-case13036.p1
Illumina 1MDuo
De novo
Simplex
Segregated
GUSBP4,POM121L14P,GAPDHP15,RBBP4P4,GAPDHP41,RBBP4P3,MTRNR2L9,LINC00680,KHDRBS2-OT,LINC00680-GUSBP4,KHDRBS2
Controls
No Control Data Available
No Animal Model Data Available