A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238985



Internal ID21686494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51371396..51371396hg38UCSC Ensembl
chr16:51405307..51405307hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg382788
hg192788
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723571
Supporting Variants
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)nssv17238985
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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