A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249016



Internal ID21696525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25151926..25151926hg38UCSC Ensembl
chr18:22731890..22731890hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727981
Supporting Variants
Samples
Known GenesZNF521
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)nssv17249016
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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