A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728080



Internal ID21754401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70078972..70078972hg38UCSC Ensembl
chr17:68075113..68075113hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38874
hg19874
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246325, nssv17249212
Samples
Known GenesKCNJ16
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)nsv5728080
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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