A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710242



Internal ID21736563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19239130..19239130hg38UCSC Ensembl
chr11:19260677..19260677hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214178, nssv17190447
Samples
Known GenesE2F8
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)nsv5710242
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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