A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687918



Internal ID111584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:54568652..54903719hg38UCSC Ensembl
chr13:55142787..55477854hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38335068
hg19335068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506635
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687918
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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