A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702490



Internal ID21728811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27549629..27549629hg38UCSC Ensembl
chr17:25876655..25876655hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17198937, nssv17218034
Samples
Known GenesKSR1
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)nsv5702490
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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