A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413365



Internal ID192656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159282426..159282477hg38UCSC Ensembl
chr5:158709434..158709485hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975292
Samples
Known GenesUBLCP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413365
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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