A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205308



Internal ID20772348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181013571..181014716hg38UCSC Ensembl
chr2:181878298..181879443hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg381146
hg191146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351644
Supporting Variants
Samples
Known GenesUBE2E3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205308
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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