A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687733



Internal ID111399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51044659..51044723hg38UCSC Ensembl
chr13:51618795..51618859hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494252
Supporting Variants
Samples
Known GenesGUCY1B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687733
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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