A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14357703



Internal ID22210626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36536940..36536940hg38UCSC Ensembl
chr11:36558490..36558490hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559545
Supporting Variants
SamplesHG00732
Known Genes
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)nssv14357703
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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