A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712076



Internal ID21738397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129889661..129889661hg38UCSC Ensembl
chr11:129759556..129759556hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191618, nssv17232314
Samples
Known GenesNFRKB
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)nsv5712076
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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