A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468390



Internal ID246188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159772647..159772745hg38UCSC Ensembl
chr5:159199654..159199752hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975334
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468390
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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