A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720069



Internal ID21746390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46085933..46085933hg38UCSC Ensembl
chr18:43665899..43665899hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240540
Samples
Known GenesATP5A1
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)nsv5720069
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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