A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14330335



Internal ID22284959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:139349903..139349903hg38UCSC Ensembl
chr6:139671040..139671040hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg385338
hg195338
Variant TypeCNV line1 insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564411
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)nssv14330335
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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