A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702312



Internal ID21728633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:32412732..32412732hg38UCSC Ensembl
chr11:32434278..32434278hg19UCSC Ensembl
Cytoband11p13
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 Variantsnssv17189899, nssv17218950
Samples
Known GenesWT1
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)nsv5702312
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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