A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205328



Internal ID21652837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:84059624..84059624hg38UCSC Ensembl
chrX:83314632..83314632hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717086
Supporting Variants
Samples
Known GenesRPS6KA6
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)nssv17205328
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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