A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212271



Internal ID20779311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56756548..56759274hg38UCSC Ensembl
chr3:56790576..56793302hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg382727
hg192727
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6365837
Supporting Variants
Samples
Known GenesARHGEF3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212271
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01006


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