A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560879



Internal ID22429674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70738621..70738621hg38UCSC Ensembl
chr17:68734762..68734762hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282171
SamplesNA19238
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)nsv3560879
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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