3p25.1-p24.3CNV Type: Deletion
Largest CNV size: 1409600 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
Structural variation of chromosomes in autism spectrum disorder.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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
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
957927
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
1409600
1
0
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
875991
1
1
2
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
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
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
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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-ISCA00004079
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14053769
15011686
957918
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0152-003
NA
M
ASD
RL/EL moderate/sever delay, severe speech unintelligibility, moderate repetitive behavior, hypotonia
LOF 31
15109289
16518889
1409601
GRCh38
Deletion
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-controlB592971_1007873531
N/A
N/A
Control
No previous psychiatric history
13934406
14810384
875979
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB679080_1007872565
N/A
N/A
Control
No previous psychiatric history
14484523
14772649
288127
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-ISCA00004079
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
VN1R21P,RNA5SP124,RNU6-905P,RHBDF1P1,CHCHD4,TMEM43,LSM3,LINC01267,CCDC174,NR2C2,TPRXL,XPC,SLC6A6,GRIP2,LINC02011,FGD5,FGD5-AS1,C3orf20
marshall_08_ASD_discovery_cases-SK0152-003
qPCR, qmPCR
De novo
Multiplex-CHR
NA
RPS3AP53,SH3BP5-AS1,RNU6-454P,HMGN2P7,RNU6-1024P,MIR4270,RN7SL110P,MIR3134,RN7SL4P,MIR563,IMPDH1P8,DPH3,CAPN7,METTL6,EAF1,EAF1-AS1,BTD,GALNT15,OXNAD1,COL6A4P1,SH3BP5,COLQ,HACL1,RFTN1,ANKRD28
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB592971_1007873531
Unknown
FGD5P1,VN1R21P,RNA5SP124,RNU6-905P,RHBDF1P1,CHCHD4,TMEM43,LSM3,LINC01267,CCDC174,TPRXL,XPC,SLC6A6,GRIP2,LINC02011,C3orf20
engchuan_15_ASD_discovery_controls-controlB679080_1007872565
Unknown
RNU6-905P,RHBDF1P1,CCDC174,SLC6A6,GRIP2,C3orf20
No Animal Model Data Available