A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722942



Internal ID21749263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:6560903..6560903hg38UCSC Ensembl
chr9:6560903..6560903hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239027
Samples
Known GenesGLDC
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)nsv5722942
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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