A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559226



Internal ID22428030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:115776607..115776607hg38UCSC Ensembl
chr10:117536118..117536118hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14354615
SamplesNA19239
Known GenesATRNL1
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)nsv3559226
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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