A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17034476



Internal ID90679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:58336848..58336899hg38UCSC Ensembl
chr10:60096608..60096659hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg386012
hg196012
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559262
Supporting Variants
Samples
Known GenesUBE2D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17034476
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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