A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724409



Internal ID21750730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53510745..53510745hg38UCSC Ensembl
chr16:53544657..53544657hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247491, nssv17244383
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)nsv5724409
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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