A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461995



Internal ID239935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81329611..81329875hg38UCSC Ensembl
chr5:80625430..80625694hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968537
Samples
Known GenesRNU5D-1, RNU5E-1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461995
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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