A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215653



Internal ID20782693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21027696..21594616hg38UCSC Ensembl
chr5:21027805..21594725hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38566921
hg19566921
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6383845
Supporting Variants
Samples
Known GenesGUSBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215653
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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