A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18226987



Internal ID20794027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57216901..57226300hg38UCSC Ensembl
chr6:57081699..57091098hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg389400
hg199400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6406767
Supporting Variants
Samples
Known GenesRAB23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18226987
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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