A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699563



Internal ID21725884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:121295711..121295711hg38UCSC Ensembl
chr11:121166420..121166420hg19UCSC 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 Variantsnssv17190689, nssv17213398
Samples
Known GenesSC5D
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)nsv5699563
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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