A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729973



Internal ID21756294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:25614644..25614644hg38UCSC Ensembl
chrX:25632761..25632761hg19UCSC Ensembl
CytobandXp21.3
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 Variantsnssv17230211, nssv17203867
Samples
Known Genes
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)nsv5729973
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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