A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716368



Internal ID21742689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73701438..73701438hg38UCSC Ensembl
chr13:74275575..74275575hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239887
Samples
Known GenesKLF12
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)nsv5716368
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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