A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706595



Internal ID21732916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126214527..126214527hg38UCSC Ensembl
chr11:126084422..126084422hg19UCSC Ensembl
Cytoband11q24.2
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 Variantsnssv17192055
Samples
Known GenesFAM118B
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)nsv5706595
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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