A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14459780



Internal ID22212321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118864064..118864064hg38UCSC Ensembl
chr5:118199759..118199759hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg382452
hg192452
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558180
Supporting Variants
SamplesHG00733
Known GenesDTWD2
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)nssv14459780
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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