A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698859



Internal ID21725180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48892894..48892894hg38UCSC Ensembl
chr10:50100939..50100939hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219693, nssv17188511
Samples
Known GenesWDFY4
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)nsv5698859
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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