A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727956



Internal ID21754277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:24952284..24952284hg38UCSC Ensembl
chr6:24952512..24952512hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241678
Samples
Known GenesFAM65B
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)nsv5727956
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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