A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715178



Internal ID21741499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46164728..46164728hg38UCSC Ensembl
chr6:46132465..46132465hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381886
hg191886
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235063
Samples
Known GenesENPP5
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)nsv5715178
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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