A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725457



Internal ID21751778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:13594187..13594187hg38UCSC Ensembl
chr4:13595811..13595811hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234419, nssv17236722
Samples
Known GenesBOD1L1
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)nsv5725457
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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