A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17219464



Internal ID21666973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:21866302..21866302hg38UCSC Ensembl
chrX:21884420..21884420hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721959
Supporting Variants
Samples
Known GenesMBTPS2
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)nssv17219464
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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