A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726460



Internal ID21752781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58256262..58256262hg38UCSC Ensembl
chr8:59168821..59168821hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg383678
hg193678
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246092
Samples
Known GenesLOC101929528
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5726460
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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