A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695649



Internal ID21721970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:47901844..47901844hg38UCSC Ensembl
chr13:48475979..48475979hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224365, nssv17193935
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)nsv5695649
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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