A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729395



Internal ID21755716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99481479..99481479hg38UCSC Ensembl
chr6:99929355..99929355hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238215
Samples
Known GenesUSP45
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)nsv5729395
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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