A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194343



Internal ID20761383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66991214..66993533hg38UCSC Ensembl
chr16:67025117..67027436hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg382320
hg192320
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6510191
Supporting Variants
Samples
Known GenesCES4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194343
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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