A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704123



Internal ID21730444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:86330933..86330933hg38UCSC Ensembl
chr11:86041975..86041975hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17231929, nssv17191259
Samples
Known GenesC11orf73
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)nsv5704123
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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