A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718553



Internal ID21744874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:83717780..83717780hg38UCSC Ensembl
chr9:86332695..86332695hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg381312
hg191312
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233401
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)nsv5718553
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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