A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697371



Internal ID21723692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114572601..114572601hg38UCSC Ensembl
chr11:114443323..114443323hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191907
Samples
Known GenesNXPE4
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)nsv5697371
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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