A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707517



Internal ID21733838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78846757..78846757hg38UCSC Ensembl
chr17:76842839..76842839hg19UCSC Ensembl
Cytoband17q25.3
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 Variantsnssv17200425, nssv17220504
Samples
Known Genes
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)nsv5707517
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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