A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391077



Internal ID22247814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52674219..52674219hg38UCSC Ensembl
chr15:52966416..52966416hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561035
Supporting Variants
SamplesHG00733
Known GenesFAM214A
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)nssv14391077
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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