A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705062



Internal ID21731383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30661856..30661856hg38UCSC Ensembl
chr19:31152763..31152763hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202046, nssv17228890
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)nsv5705062
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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