A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680277



Internal ID21706598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64561876..64561876hg38UCSC Ensembl
chr5:63857703..63857703hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177729, nssv17210960
Samples
Known GenesRGS7BP
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)nsv5680277
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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