A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726843



Internal ID21753164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72518019..72518019hg38UCSC Ensembl
chr11:72229063..72229063hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234427, nssv17248171
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)nsv5726843
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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