A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14465898



Internal ID22218186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54726787..54726787hg38UCSC Ensembl
chr8:55639347..55639347hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521242
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14465898
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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