A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290783



Internal ID22121487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75939826..75939826hg38UCSC Ensembl
chr2:76166952..76166952hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg386012
hg196012
Variant TypeCNV line1 insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562913
Supporting Variants
SamplesHG00512
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)nssv14290783
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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