A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564023



Internal ID22432758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64561876..64561876hg38UCSC Ensembl
chr5:63857703..63857703hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14323094, nssv14323093
SamplesNA19238, NA19240
Known GenesRGS7BP
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)nsv3564023
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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