A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728353



Internal ID21754674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48525668..48525668hg38UCSC Ensembl
chr2:48752807..48752807hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248048, nssv17243650
Samples
Known Genes
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)nsv5728353
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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