A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5996112



Internal ID21905455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183320219..183321836hg38UCSC Ensembl
chr4:184241372..184242989hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381618
hg191618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17551411
Samples
Known GenesCLDN22, CLDN24, WWC2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5996112
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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