A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194947



Internal ID20761987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52746075..52746836hg38UCSC Ensembl
chr14:53212793..53213554hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38762
hg19762
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485753
Supporting Variants
Samples
Known GenesSTYX
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194947
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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