A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714423



Internal ID21740744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129459987..129459987hg38UCSC Ensembl
chr11:129329882..129329882hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38890
hg19890
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242924, nssv17236661
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5714423
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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