A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194353



Internal ID20761393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22897495..22901159hg38UCSC Ensembl
chr14:23366704..23370368hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg383665
hg193665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6476887
Supporting Variants
Samples
Known GenesRBM23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194353
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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