A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214477



Internal ID20781517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134381033..134387057hg38UCSC Ensembl
chr5:133716724..133722748hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg386025
hg196025
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6395788
Supporting Variants
Samples
Known GenesUBE2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214477
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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