A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709474



Internal ID21735795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39316167..39316167hg38UCSC Ensembl
chr19:39806807..39806807hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17227454, nssv17202745
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)nsv5709474
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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