A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729262



Internal ID21755583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183715294..183715294hg38UCSC Ensembl
chr3:183433082..183433082hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252253, nssv17238422
Samples
Known GenesYEATS2
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)nsv5729262
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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