A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698034



Internal ID21724355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102308219..102308219hg38UCSC Ensembl
chr10:104067976..104067976hg19UCSC Ensembl
Cytoband10q24.32
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 Variantsnssv17189328
Samples
Known GenesGBF1
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)nsv5698034
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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