A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713844



Internal ID21740165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:93744968..93744968hg38UCSC Ensembl
chr11:93478134..93478134hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191821, nssv17215062
Samples
Known GenesC11orf54
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)nsv5713844
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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