A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214046



Internal ID20781086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55169801..55186300hg38UCSC Ensembl
chr5:54465629..54482128hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3816500
hg1916500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6399526
Supporting Variants
Samples
Known GenesCDC20B, MIR449A, MIR449B, MIR449C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214046
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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