A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5996111



Internal ID21905454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183319614..183321822hg38UCSC Ensembl
chr4:184240767..184242975hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg382209
hg192209
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17538939
Samples
Known GenesCLDN22, CLDN24, WWC2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5996111
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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