A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686189



Internal ID21712510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:153328867..153328867hg38UCSC Ensembl
chr4:154250019..154250019hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17212720, nssv17174769
Samples
Known GenesTRIM2
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)nsv5686189
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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