3p12.3-p12.2CNV Type: Duplication
Largest CNV size: 3103118 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
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
3102777
0
1
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
3103118
0
1
1
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
0
1
1
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
3646808
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
479160
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
476214
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004813
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
80263433
83366209
3102777
GRCh38
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case25883
NA
NA
ASD
NA
NA
80395073
83498191
3103118
Unknown
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
engchuan_15_ASD_discovery_controls-controlHABC_902645_902645
N/A
N/A
Control
No previous psychiatric history
78684132
82330939
3646808
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12499.s1
NA
M
Control
NA
NA
81367405
81846564
479160
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12499.s1
9.4
M
Control (matched sibling)
NA
NA
81371045
81847259
476215
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004813
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU2-28P,SETP6,RPL7AP23,CYP51A1P1,LINC02050,LINC02027,GBE1,LINC02008
rosenfeld_10_ASD_discovery_cases-case25883
FISH
Maternal
Unknown
Unknown
GBE1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_902645_902645
Unknown
MIR3923,HMGB1P38,OSBPL9P1,HNRNPA3P8,RNU2-28P,SETP6,RPL7AP23,RN7SL751P,LINC02050,LINC02027,GBE1,LINC02008,ROBO1
levy_11_ASD_discovery_controls-12499.s1
Maternal
Simplex
NA
RNU2-28P,SETP6,GBE1
sanders_11_ASD_discovery_controls-12499.s1
Maternal
Simplex (quad)
NA
RNU2-28P,SETP6,GBE1
No Animal Model Data Available