A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6400916



Internal ID21058469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55992901..55997100hg38UCSC Ensembl
chr5:55288729..55292928hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg384200
hg194200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214064
Samples
Known GenesFLJ31104, IL6ST
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6400916
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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