A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715688



Internal ID21742009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108039794..108039794hg38UCSC Ensembl
chr8:109052022..109052022hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg386012
hg196012
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236670
Samples
Known GenesRSPO2
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)nsv5715688
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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