Xq25-q26CNV Type: Deletion-Duplication
Largest CNV size: N/A bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Five deletions and four duplications within this region with a minimum gene content of the UPF3B gene were identified from a cohort of 57,365 individuals with a predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA) and contain, among other genes, the UPF2 gene (Nguyen et al., 2013). However, because the exact start and end points of these CNVs were not provided, the exact size and gene content cannot be determined.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
N/A
5
4
9
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient241
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient242
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient243
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient244
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient245
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient246
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient247
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient248
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient249
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control55
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient241
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient242
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient243
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient244
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient245
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient246
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient247
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient248
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient249
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control55
Unknown
Unknown
Minimum CNV gene content: UPF3B
No Animal Model Data Available