A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366181



Internal ID22268277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75705806..75705806hg38UCSC Ensembl
chr13:76279942..76279942hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560174
Supporting Variants
SamplesNA19238
Known GenesLMO7
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)nssv14366181
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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