A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5455293



Internal ID233374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:87259606..87261709hg38UCSC Ensembl
chr5:86555423..86557526hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg382104
hg192104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968765
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5455293
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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