A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010837



Internal ID74859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48052415..48117097hg38UCSC Ensembl
chr8:48964975..49029657hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3864683
hg1964683
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5474615
Supporting Variants
Samples
Known GenesUBE2V2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010837
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001718


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