A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532862



Internal ID22402184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:71675814..71675814hg38UCSC Ensembl
chr8:72588049..72588049hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV herv insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14428582
SamplesHG00514
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)nsv3532862
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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