A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724456



Internal ID21750777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115637495..115637495hg38UCSC Ensembl
chrX:114871807..114871807hg19UCSC Ensembl
CytobandXq23
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 Variantsnssv17205410
Samples
Known GenesPLS3
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)nsv5724456
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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