A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14317036



Internal ID22266053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:158193577..158193577hg38UCSC Ensembl
chr4:159114729..159114729hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563201
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14317036
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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