A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251153



Internal ID21698662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63363218..63363218hg38UCSC Ensembl
chr18:61030451..61030451hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg382146
hg192146
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722851
Supporting Variants
Samples
Known GenesKDSR
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)nssv17251153
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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