A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562565



Internal ID22431311
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14292069, nssv14292068, nssv14292067
SamplesNA19238, NA19239, NA19240
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)nsv3562565
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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