A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708732



Internal ID21735053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:108678783..108678783hg38UCSC Ensembl
chr11:108549510..108549510hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191540, nssv17223204
Samples
Known GenesDDX10
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)nsv5708732
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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