6q14.2CNV Type: Deletion
Largest CNV size: 77195 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
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
5951
2
0
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
77195
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
75859
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
3620
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
77195
3
0
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
krumm_15_ASD_discovery_cases-case11069.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
84149561
84153181
3621
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13394.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
84149561
84155512
5952
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12250.p1
10.8
F
Aspergers
NA
Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
83519395
83522268
2874
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13104.p1
9.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
83443536
83520731
77196
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlHABC_901040_901040
N/A
N/A
Control
No previous psychiatric history
83443536
83519395
75860
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control13394.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
84149561
84153181
3621
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-12250.s1
6
F
Control (matched sibling)
NA
NA
83519395
83522268
2874
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12951.s1
12.1
M
Control (matched sibling)
NA
NA
83519395
83522268
2874
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13104.s1
8.1
F
Control (matched sibling)
NA
NA
83443536
83520731
77196
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_cases-case11069.p1
Illumina 1M
Maternal
Simplex
Segregated
CEP162
krumm_15_ASD_discovery_cases-case13394.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CEP162
sanders_11_ASD_discovery_cases-12250.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PRSS35
sanders_11_ASD_discovery_cases-13104.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PRSS35
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_901040_901040
Unknown
PRSS35
krumm_15_ASD_discovery_controls-control13394.s1
1M-Duov3
Maternal
CEP162
sanders_11_ASD_discovery_controls-12250.s1
Maternal
Simplex (quad)
NA
PRSS35
sanders_11_ASD_discovery_controls-12951.s1
Maternal
Simplex (quad)
NA
PRSS35
sanders_11_ASD_discovery_controls-13104.s1
Paternal
Simplex (quad)
NA
PRSS35
No Animal Model Data Available