A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17025851



Internal ID84970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96235937..96236012hg38UCSC Ensembl
chr9:98998219..98998294hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476870
Supporting Variants
Samples
Known GenesHSD17B3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17025851
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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