A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17230963



Internal ID21678472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114786640..114786640hg38UCSC Ensembl
chr3:114505487..114505487hg19UCSC 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 Variantsnsv5682974
Supporting Variants
Samples
Known GenesZBTB20
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17230963
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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