A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17190237



Internal ID21637746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26568130..26568130hg38UCSC Ensembl
chr1:26894621..26894621hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5680084
Supporting Variants
Samples
Known GenesRPS6KA1
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)nssv17190237
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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