A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16946242



Internal ID31521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:20729378..20729531hg38UCSC Ensembl
chr4:20731001..20731154hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453698
Supporting Variants
Samples
Known GenesKCNIP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16946242
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01266


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