A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243587



Internal ID21691096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14890033..14890033hg38UCSC Ensembl
chr18:14890032..14890032hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716236
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)nssv17243587
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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