A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540417



Internal ID22409557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:17775993..17775993hg38UCSC Ensembl
chr3:17817485..17817485hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV herv insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396517, nssv14424052
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a HERV mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3540417
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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