A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711284



Internal ID21737605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:99342442..99342442hg38UCSC Ensembl
chr10:101102199..101102199hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17189299
Samples
Known GenesCNNM1
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)nsv5711284
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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