A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14308553



Internal ID22188772
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562725
Supporting Variants
SamplesHG00731
Known GenesZBTB20
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14308553
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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