A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728821



Internal ID21755142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19663917..19663917hg38UCSC Ensembl
chr11:19685463..19685463hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238414
Samples
Known GenesNAV2
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)nsv5728821
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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