A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710582



Internal ID21736903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:110689594..110689594hg38UCSC Ensembl
chr11:110560317..110560317hg19UCSC Ensembl
Cytoband11q23.1
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 Variantsnssv17191563, nssv17223039
Samples
Known GenesARHGAP20
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)nsv5710582
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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