A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052109



Internal ID102591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94056896..94077000hg38UCSC Ensembl
chr11:93790062..93810166hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3820105
hg1920105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143164
Supporting Variants
Samples
Known GenesHEPHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052109
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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