A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205027



Internal ID21652536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:129793287..129793287hg38UCSC Ensembl
chrX:128927263..128927263hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729495
Supporting Variants
Samples
Known GenesSASH3
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)nssv17205027
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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