A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193204



Internal ID20760244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:62850328..62918471hg38UCSC Ensembl
chr14:63317046..63385189hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3868144
hg1968144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6491076
Supporting Variants
Samples
Known GenesKCNH5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193204
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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