A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727240



Internal ID21753561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:33195817..33195817hg38UCSC Ensembl
chr15:33488018..33488018hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg381263
hg191263
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238762, nssv17249337
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)nsv5727240
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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