A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213322



Internal ID20780362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109781511..110311769hg38UCSC Ensembl
chr5:109117212..109647470hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38530259
hg19530259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407864
Supporting Variants
Samples
Known GenesLOC100289673, MAN2A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213322
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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