A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518218



Internal ID294615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66964312..66964754hg38UCSC Ensembl
chr16:66998215..66998657hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709121
Samples
Known GenesCES3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518218
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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