A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711916



Internal ID21738237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65048331..65048331hg38UCSC Ensembl
chr17:63044449..63044449hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224903, nssv17198472
Samples
Known GenesGNA13
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)nsv5711916
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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