A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707600



Internal ID21733921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70177511..70177511hg38UCSC Ensembl
chr17:68173652..68173652hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200012
Samples
Known GenesKCNJ2
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)nsv5707600
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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