A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377395



Internal ID22322433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55038743..55038743hg38UCSC Ensembl
chr17:53116104..53116104hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560871
Supporting Variants
SamplesNA19240
Known GenesSTXBP4
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)nssv14377395
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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