A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428039



Internal ID22169149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11204147..11204147hg38UCSC Ensembl
chr8:11061656..11061656hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558814
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14428039
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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