A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713784



Internal ID21740105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:63699382..63699382hg38UCSC Ensembl
chr15:63991581..63991581hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17197124
Samples
Known GenesHERC1
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)nsv5713784
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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