A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209976



Internal ID20777016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:5174512..5344847hg38UCSC Ensembl
chr3:5216197..5386532hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38170336
hg19170336
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6365015
Supporting Variants
Samples
Known GenesARL8B, EDEM1, MIR4790
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209976
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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