A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728075



Internal ID21754396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99517120..99517120hg38UCSC Ensembl
chr13:100169374..100169374hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249853
Samples
Known GenesTM9SF2
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)nsv5728075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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