A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564016



Internal ID22432751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51400121..51400121hg38UCSC Ensembl
chr5:50695955..50695955hg19UCSC Ensembl
Cytoband5q11.1
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 Variantsnssv14320858
SamplesNA19239
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)nsv3564016
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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