A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704438



Internal ID21730759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112154847..112154847hg38UCSC Ensembl
chr11:112025570..112025570hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17229332, nssv17191588
Samples
Known GenesIL18
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)nsv5704438
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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