A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709145



Internal ID21735466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:79064862..79064862hg38UCSC Ensembl
chr15:79357204..79357204hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220830
Samples
Known GenesRASGRF1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5709145
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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