A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718609



Internal ID21744930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52255722..52255722hg38UCSC Ensembl
chr15:52547919..52547919hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243452
Samples
Known GenesMYO5C
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)nsv5718609
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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