A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694832



Internal ID21721153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110083517..110083517hg38UCSC Ensembl
chr13:110735864..110735864hg19UCSC Ensembl
Cytoband13q34
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 Variantsnssv17216263, nssv17195108
Samples
Known Genes
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)nsv5694832
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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