A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371863



Internal ID22229264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54562164..54562164hg38UCSC Ensembl
chr14:55028882..55028882hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560415
Supporting Variants
SamplesHG00733
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)nssv14371863
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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