A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703038



Internal ID21729359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56887818..56887818hg38UCSC Ensembl
chr16:56921730..56921730hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17198810
Samples
Known GenesSLC12A3
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)nsv5703038
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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