A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558928



Internal ID22427733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118864048..118864048hg38UCSC Ensembl
chr5:118199743..118199743hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg382443
hg192443
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399389
SamplesNA19240
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)nsv3558928
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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