A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247378



Internal ID21694887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22768049..22768049hg38UCSC Ensembl
chr8:22625562..22625562hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720874
Supporting Variants
Samples
Known GenesPEBP4
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)nssv17247378
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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