A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687867



Internal ID111533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53532806..53541778hg38UCSC Ensembl
chr13:54106941..54115913hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg388973
hg198973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503055
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687867
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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