3p14.3-p14.2CNV Type: Duplication
Largest CNV size: 1660615 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Duplications within this region were found in two cases from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
1728787
0
2
2
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
1660615
0
2
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1700000
0
2
2
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
124502
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
1712084
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
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
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
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
Cases
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_cases-case16086_1571084001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
58507237
60217021
1709785
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4308_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
58497934
60226720
1728787
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002071
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
58532827
60193441
1660615
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005371
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
58532827
60193441
1660615
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU2554301
N/A
F
ASD
58505273
60212272
1707000
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU2554302
N/A
M
ASD
58505273
60212272
1707000
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-086
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: N/A. Seizures: yes.
Developmental delay: yes. Intellectual disability: N/A.
58513116
58637617
124502
GRCh38
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-control110036014017_
N/A
N/A
Control
No previous psychiatric history
58504938
60217021
1712084
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case16086_1571084001
Unknown
ACOX2,FAM3D-AS1,FAM3D,FAM107A,C3orf67-AS1,FHIT,C3orf67
engchuan_15_ASD_discovery_cases-case4308_1
Unknown
KCTD6,ACOX2,FAM3D-AS1,FAM3D,FAM107A,C3orf67-AS1,FHIT,C3orf67
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002071
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ACOX2,FAM3D-AS1,FAM3D,FAM107A,C3orf67-AS1,FHIT,C3orf67
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005371
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ACOX2,FAM3D-AS1,FAM3D,FAM107A,C3orf67-AS1,FHIT,C3orf67
leppa_16_ASD_discovery_cases-AU2554301
Maternal
Multiplex
Segregated (CNV present in both affected siblings)
ACOX2,FAM3D-AS1,FAM3D,FAM107A,C3orf67-AS1,FHIT,C3orf67
leppa_16_ASD_discovery_cases-AU2554302
Maternal
Multiplex
Segregated (CNV present in both affected siblings)
ACOX2,FAM3D-AS1,FAM3D,FAM107A,C3orf67-AS1,FHIT,C3orf67
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-086
qPCR
Maternal
Unknown
Unknown
ACOX2,FAM3D-AS1,FAM3D,FAM107A
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036014017_
Unknown
ACOX2,FAM3D-AS1,FAM3D,FAM107A,C3orf67-AS1,FHIT,C3orf67
No Animal Model Data Available