A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729498



Internal ID21755819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42514141..42514141hg38UCSC Ensembl
chr15:42806339..42806339hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236370, nssv17241369
Samples
Known GenesSNAP23
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)nsv5729498
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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