A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14360970



Internal ID22211722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134220447..134220447hg38UCSC Ensembl
chr11:134090341..134090341hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559419
Supporting Variants
SamplesHG00732
Known GenesNCAPD3
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)nssv14360970
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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