A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717391



Internal ID21743712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:15528137..15528137hg38UCSC Ensembl
chr5:15528246..15528246hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238768
Samples
Known GenesFBXL7
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)nsv5717391
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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