A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709620



Internal ID21735941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:20225508..20225508hg38UCSC Ensembl
chr10:20514437..20514437hg19UCSC Ensembl
Cytoband10p12.31
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 Variantsnssv17187920
Samples
Known GenesPLXDC2
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)nsv5709620
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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