A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730545



Internal ID154211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:5168274..5168277hg38UCSC Ensembl
chr20:5148920..5148923hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5546589
Supporting Variants
Samples
Known GenesCDS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730545
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007808


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