A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690226



Internal ID21716547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27258492..27258492hg38UCSC Ensembl
chr2:27481360..27481360hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17208026, nssv17197308
Samples
Known GenesSLC30A3
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)nsv5690226
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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