A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686553



Internal ID21712874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140566826..140566826hg38UCSC Ensembl
chr4:141487980..141487980hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17174650
Samples
Known GenesUCP1
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)nsv5686553
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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