A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559768



Internal ID22428564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129889661..129889661hg38UCSC Ensembl
chr11:129759556..129759556hg19UCSC Ensembl
Cytoband11q24.3
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 Variantsnssv14362291, nssv14362292, nssv14362293
SamplesNA19238, HG00731, HG00733
Known GenesNFRKB
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)nsv3559768
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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