A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14396517



Internal ID22302863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:17775993..17775993hg38UCSC Ensembl
chr3:17817485..17817485hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV herv insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540417
Supporting Variants
SamplesNA19240
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)nssv14396517
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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