A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728244



Internal ID21754565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:26677107..26677107hg38UCSC Ensembl
chr3:26718598..26718598hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238097
Samples
Known GenesLRRC3B
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)nsv5728244
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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