A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718539



Internal ID21744860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40708268..40708268hg38UCSC Ensembl
chrX:40567520..40567520hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205254
Samples
Known GenesMED14
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)nsv5718539
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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