A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390169



Internal ID22270814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45306348..45306348hg38UCSC Ensembl
chr17:43383714..43383714hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561117
Supporting Variants
SamplesNA19239
Known GenesMAP3K14
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)nssv14390169
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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