A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14459942



Internal ID22212483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9950380..9950380hg38UCSC Ensembl
chr8:9807890..9807890hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520048
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)nssv14459942
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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