A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702528



Internal ID21728849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:114860681..114860681hg38UCSC Ensembl
chr10:116620440..116620440hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17189264
Samples
Known GenesFAM160B1
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)nsv5702528
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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