A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559284



Internal ID22428088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:6090893..6090893hg38UCSC Ensembl
chr10:6132856..6132856hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14329379, nssv14329378
SamplesNA19239, NA19240
Known GenesRBM17
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)nsv3559284
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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