A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725828



Internal ID21752149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29538811..29538811hg38UCSC Ensembl
chr21:30911132..30911132hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233549
Samples
Known GenesGRIK1
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)nsv5725828
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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