A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17386145



Internal ID22444015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66940488..67029326hg38UCSC Ensembl
chr16:66974391..67063229hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3888839
hg1988839
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5927890
Supporting Variants
Samples
Known GenesCBFB, CES2, CES3, CES4A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17386145
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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