A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209992



Internal ID20777032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52685401..52687600hg38UCSC Ensembl
chr3:52719417..52721616hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6365308
Supporting Variants
Samples
Known GenesGNL3, PBRM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209992
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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