A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712456



Internal ID21738777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118250195..118250195hg38UCSC Ensembl
chr11:118120910..118120910hg19UCSC Ensembl
Cytoband11q23.3
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 Variantsnssv17190650
Samples
Known GenesMPZL3
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)nsv5712456
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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