A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205457



Internal ID21652966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:121092844..121092844hg38UCSC Ensembl
chrX:120226698..120226698hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724790
Supporting Variants
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)nssv17205457
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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