A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701492



Internal ID21727813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:122182860..122182860hg38UCSC Ensembl
chr11:122053568..122053568hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219497, nssv17190708
Samples
Known GenesMIR100HG
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)nsv5701492
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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