A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530243



Internal ID22399631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60418463..60418463hg38UCSC Ensembl
chr2:60645598..60645598hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV herv insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394080
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)nsv3530243
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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