A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196902



Internal ID20763942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:510368..510466hg38UCSC Ensembl
chr17:413608..413706hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6509732
Supporting Variants
Samples
Known GenesVPS53
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196902
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.76909


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