A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705990



Internal ID129656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55760567..55833083hg38UCSC Ensembl
chr16:55794479..55866995hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3872517
hg1972517
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559483
Supporting Variants
Samples
Known GenesCES1, CES1P1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705990
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.253356


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