A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720117



Internal ID21746438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:68865436..68865436hg38UCSC Ensembl
chr15:69157775..69157775hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg381290
hg191290
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240524
Samples
Known GenesMIR548H4
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5720117
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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