A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717889



Internal ID21744210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118405041..118405041hg38UCSC Ensembl
chr12:118842846..118842846hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244162
Samples
Known GenesSUDS3
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)nsv5717889
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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