A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503471



Internal ID280295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102218644..102218723hg38UCSC Ensembl
chr14:102684981..102685060hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698334
Samples
Known GenesWDR20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503471
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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