A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292068



Internal ID22279088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27831218..27831218hg38UCSC Ensembl
chr2:28054085..28054085hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562565
Supporting Variants
SamplesNA19239
Known GenesRBKS
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)nssv14292068
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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