A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705384



Internal ID21731705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76658550..76658550hg38UCSC Ensembl
chr11:76369594..76369594hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17229951, nssv17190175
Samples
Known GenesLRRC32
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)nsv5705384
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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