A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16936424



Internal ID25006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114545873..114545924hg38UCSC Ensembl
chr3:114264720..114264771hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412218
Supporting Variants
Samples
Known GenesZBTB20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16936424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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