20q11.21-q11.22CNV Type: Duplication
Largest CNV size: 114000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A paternally-inherited duplication within this locus was identified in a male patient presenting with an unspecific neurodevelopmental disorder (Asadollahi et al., 2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
The clinical significance of small copy number variants in neurodevelopmental disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
114000
0
1
1
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
1783303
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
None
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
asadollahi_14_NDD_discovery_cases-case45679
N/A
M
NDD
Case with unspecified neurodevelopmental disorder
33390779
33505146
114368
GRCh38
Duplication
Yes
pfundt_16_NDD_discovery_cases-case125
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: DNMT3B AHCY deletion
32728088
34511393
1783306
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case45679
MLPA
Paternal
Unknown
Unknown
CDK5RAP1,SNTA1,CBFA2T2
pfundt_16_NDD_discovery_cases-case125
BPIFB6,PUDPP3,SOCS2P1,RPL12P3,BPIFB9P,C20orf144,ACTL10,RPL31P2,TPM3P2,PIGPP3,RALY-AS1,MIR4755,RPS2P1,XPOTP1,CDC42P1,ITCH-AS1,ITCH-IT1,MIR644A,FDX1P1,COMMD7,MAPRE1,SUN5,BPIFB2,BPIFB3,BPIFB4,BPIFA2,BPIFA4P,BPIFA3,BPIFA1,BPIFB5P,CDK5RAP1,NECAB3,PXMP4,ZNF341,ZNF341-AS1,EIF2S2,AHCY,DNMT3B,EFCAB8,BPIFB1,SNTA1,E2F1,CHMP4B,RALY,ASIP,ITCH,CBFA2T2
Controls
No Control Data Available
No Animal Model Data Available