A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726423



Internal ID21752744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83564303..83564303hg38UCSC Ensembl
chr5:82860122..82860122hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238989
Samples
Known GenesVCAN
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)nsv5726423
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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