A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560928



Internal ID22429723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56535896..56535896hg38UCSC Ensembl
chr16:56569808..56569808hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14375017, nssv14379701
SamplesHG00731, HG00733
Known Genes
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)nsv3560928
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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