A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5674511



Internal ID21700832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71577713..71577713hg38UCSC Ensembl
chr5:70873540..70873540hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17211008, nssv17176264
Samples
Known Genes
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)nsv5674511
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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