A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234491



Internal ID21682000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47690638..47690638hg38UCSC Ensembl
chr6:47658374..47658374hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723259
Supporting Variants
Samples
Known GenesGPR111
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)nssv17234491
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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