A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454237



Internal ID22216998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58703418..58703418hg38UCSC Ensembl
chr8:59615977..59615977hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524168
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)nssv14454237
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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