A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691416



Internal ID21717737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74301035..74301035hg38UCSC Ensembl
chr5:73596860..73596860hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213162, nssv17177062
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)nsv5691416
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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