A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469364



Internal ID247153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179533709..179601599hg38UCSC Ensembl
chr5:178960710..179028600hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3867891
hg1967891
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976938
Samples
Known GenesRUFY1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469364
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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