A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721788



Internal ID21748109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12796878..12796878hg38UCSC Ensembl
chrX:12814997..12814997hg19UCSC Ensembl
CytobandXp22.2
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 Variantsnssv17202230
Samples
Known GenesPRPS2
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)nsv5721788
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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