A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471739



Internal ID249469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183134392..183414752hg38UCSC Ensembl
chr4:184055545..184335905hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38280361
hg19280361
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962184
Samples
Known GenesCLDN22, CLDN24, WWC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471739
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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