A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198028



Internal ID20765068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10493098..10498302hg38UCSC Ensembl
chr19:10603774..10608978hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg385205
hg195205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6534803
Supporting Variants
Samples
Known GenesKEAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198028
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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