A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559677



Internal ID22428477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43335405..43335405hg38UCSC Ensembl
chr11:43356955..43356955hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14357477
SamplesHG00732
Known GenesAPI5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559677
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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