A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18224507



Internal ID20791547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46398688..46400569hg38UCSC Ensembl
chr6:46366425..46368306hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381882
hg191882
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6409686
Supporting Variants
Samples
Known GenesRCAN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18224507
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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