A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559483



Internal ID332516
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 StatusM
Merged Variants
Supporting Variantsnssv17705990
Samples
Known GenesCES1, CES1P1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559483
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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