A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14363512



Internal ID22272891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55291603..55291603hg38UCSC Ensembl
chr12:55685387..55685387hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559649
Supporting Variants
SamplesNA19239
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)nssv14363512
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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