A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678245



Internal ID21704566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134845755..134845755hg38UCSC Ensembl
chr5:134181445..134181445hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179021
Samples
Known GenesC5orf24
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)nsv5678245
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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