A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205630



Internal ID20772670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218358431..218362217hg38UCSC Ensembl
chr2:219223154..219226940hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383787
hg193787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348539
Supporting Variants
Samples
Known GenesC2orf62
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205630
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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