A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729166



Internal ID21755487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54282775..54282775hg38UCSC Ensembl
chr18:51809145..51809145hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251169, nssv17239712
Samples
Known GenesPOLI
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)nsv5729166
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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