A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724539



Internal ID21750860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:82978337..82978337hg38UCSC Ensembl
chr11:82689379..82689379hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg381215
hg191215
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238858
Samples
Known GenesRAB30
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)nsv5724539
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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