A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239987



Internal ID21687496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31430337..31430337hg38UCSC Ensembl
chr12:31583271..31583271hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726675
Supporting Variants
Samples
Known GenesDENND5B
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)nssv17239987
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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