A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686724



Internal ID21713045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124850482..124850482hg38UCSC Ensembl
chr5:124186175..124186175hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17229947, nssv17178242
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)nsv5686724
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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