A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724904



Internal ID21751225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:13937639..13937639hg38UCSC Ensembl
chr9:13937638..13937638hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg382676
hg192676
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244192, nssv17252301
Samples
Known GenesLINC00583
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)nsv5724904
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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