A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719910



Internal ID21746231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:87726764..87726764hg38UCSC Ensembl
chrX:86981764..86981764hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205366, nssv17214984
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)nsv5719910
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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