A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723608



Internal ID21749929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:99850048..99850048hg38UCSC Ensembl
chr9:102612330..102612330hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242184
Samples
Known GenesNR4A3
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)nsv5723608
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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