A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193015



Internal ID20760056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46053001..46056300hg38UCSC Ensembl
chr13:46627136..46630435hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6479244
Supporting Variants
Samples
Known GenesCPB2, CPB2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193015
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00048


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