A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694649



Internal ID21720970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19227529..19227529hg38UCSC Ensembl
chr11:19249076..19249076hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17231906, nssv17190446
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)nsv5694649
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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