A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557575



Internal ID22426381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42814010..42814010hg38UCSC Ensembl
chr5:42814112..42814112hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425642
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)nsv3557575
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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