A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212455



Internal ID20779495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114920001..114933500hg38UCSC Ensembl
chr5:114255698..114269197hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3813500
hg1913500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6404583
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212455
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00014


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