A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714630



Internal ID21740951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116385754..116385754hg38UCSC Ensembl
chr12:116823559..116823559hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233530
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)nsv5714630
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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