A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244468



Internal ID21691977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58677983..58677983hg38UCSC Ensembl
chr18:56345215..56345215hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730757
Supporting Variants
Samples
Known GenesMALT1
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)nssv17244468
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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