A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718266



Internal ID21744587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110253386..110253386hg38UCSC Ensembl
chr9:113015666..113015666hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38880
hg19880
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245691
Samples
Known GenesTXN
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)nsv5718266
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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