A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377909



Internal ID22221571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:38477244..38477244hg38UCSC Ensembl
chr15:38769445..38769445hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560448
Supporting Variants
SamplesHG00733
Known GenesFAM98B
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)nssv14377909
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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