4q24-q25CNV Type: Duplication
Largest CNV size: 4428525 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton duplication within this region was found in a case 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
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
4428525
0
1
1
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
548000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
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
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002556
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
105778347
110206873
4428527
GRCh38
Duplication
Yes
monteiro_19_ASD_discovery_cases_case30
N/A
M
ASD and developmental delay
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: developmental delay. Dysmorphic features: present. Growth parameters: macrocephaly.
106696477
107244672
548196
GRCh38
Duplication
No
Controls
No Control Data Available
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-ISCA00002556
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ACTR6P1,RAC1P5,RNU6-551P,RNU6-733P,RPSAP34,ZACNP1,EXOC7P1,RNU6-431P,RN7SL55P,MIR576,SETP20,CDC42P4,HIGD1AP14,KRT19P3,RNU6-35P,RN7SL275P,AIMP1,GIMD1,LINC02173,CYP2U1,LEF1-AS1,RPL34-AS1,RPL34,ETNPPL,RBMXP4,SEC24B-AS1,CASP6,PLA2G12A,CFI,GAR1,LRIT3,INTS12,GSTCD,TBCK,PAPSS1,SGMS2,LEF1,OSTC,RCC2P8,ZCCHC23,SEC24B,MCUB,RRH,EGF,NPNT,DKK2,HADH,ELOVL6,COL25A1
monteiro_19_ASD_discovery_cases_case30
Unknown
ACTR6P1,RAC1P5,DKK2
Controls
No Control Data Available
No Animal Model Data Available