A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714863



Internal ID21741184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99264748..99264748hg38UCSC Ensembl
chr4:100185905..100185905hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250141
Samples
Known GenesLOC100507053
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)nsv5714863
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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