A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18224280



Internal ID20791320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53848948..54247340hg38UCSC Ensembl
chr8:54761508..55159900hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38398393
hg19398393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6426684
Supporting Variants
Samples
Known GenesLYPLA1, MRPL15, RGS20, TCEA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18224280
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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