A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205237



Internal ID20772277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17527201..17534100hg38UCSC Ensembl
chr20:17507846..17514745hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6535264
Supporting Variants
Samples
Known GenesBFSP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205237
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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