A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722712



Internal ID21749033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:79790978..79790978hg38UCSC Ensembl
chrX:79046475..79046475hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17204581
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)nsv5722712
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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