A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722068



Internal ID21748389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:25402980..25402980hg38UCSC Ensembl
chr10:25691909..25691909hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247261
Samples
Known GenesGPR158
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)nsv5722068
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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