A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208373



Internal ID20775413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238002834..238007324hg38UCSC Ensembl
chr2:238911476..238915966hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384491
hg194491
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6342517
Supporting Variants
Samples
Known GenesUBE2F, UBE2F-SCLY
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208373
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00066


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