A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214026



Internal ID20781066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54029894..54467080hg38UCSC Ensembl
chr5:53325724..53762910hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38437187
hg19437187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6404824
Supporting Variants
Samples
Known GenesARL15, HSPB3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214026
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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