A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18020121



Internal ID20587161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:62804771..62811054hg38UCSC Ensembl
chr14:63271489..63277772hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg386284
hg196284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6481851
Supporting Variants
Samples
Known GenesKCNH5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18020121
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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