A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718981



Internal ID21745302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:14899131..14899131hg38UCSC Ensembl
chrX:14917253..14917253hg19UCSC Ensembl
CytobandXp22.2
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 Variantsnssv17202255, nssv17217193
Samples
Known GenesMOSPD2
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)nsv5718981
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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