A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709888



Internal ID133554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82055510..82055561hg38UCSC Ensembl
chr16:82089115..82089166hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428493
Supporting Variants
Samples
Known GenesHSD17B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709888
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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