A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713589



Internal ID21739910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:97642825..97642825hg38UCSC Ensembl
chr10:99402582..99402582hg19UCSC Ensembl
Cytoband10q24.2
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 Variantsnssv17231266, nssv17188335
Samples
Known GenesPI4K2A
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)nsv5713589
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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