A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456954



Internal ID235011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80180106..80186869hg38UCSC Ensembl
chr5:79475928..79482691hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg386764
hg196764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967285
Samples
Known GenesSERINC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456954
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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