A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679839



Internal ID21706160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134895682..134895682hg38UCSC Ensembl
chr5:134231372..134231372hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179025, nssv17223531
Samples
Known GenesTXNDC15
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)nsv5679839
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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