A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246041



Internal ID21693550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:53311138..53311138hg38UCSC Ensembl
chr18:50837508..50837508hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg386013
hg196013
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720360
Supporting Variants
Samples
Known GenesDCC
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)nssv17246041
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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