A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730438



Internal ID154104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3812335..3818335hg38UCSC Ensembl
chr20:3792982..3798982hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146273
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730438
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000478


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