A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732750



Internal ID156416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47624455..47624490hg38UCSC Ensembl
chr20:46253199..46253234hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533939
Supporting Variants
Samples
Known GenesNCOA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732750
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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