A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17189059



Internal ID21636568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:60973718..60973718hg38UCSC Ensembl
chr10:62733476..62733476hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703332
Supporting Variants
Samples
Known GenesRHOBTB1
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)nssv17189059
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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