A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013486



Internal ID76666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86520140..86520346hg38UCSC Ensembl
chr8:87532368..87532574hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478628
Supporting Variants
Samples
Known GenesCPNE3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013486
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.023416


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