A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681484



Internal ID21707805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140134464..140134464hg38UCSC Ensembl
chr4:141055618..141055618hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209810, nssv17174647
Samples
Known GenesMAML3
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)nsv5681484
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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