A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247491



Internal ID21695000
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 StatusS
Merged Variantsnsv5724409
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)nssv17247491
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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