A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725896



Internal ID21752217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53451214..53451214hg38UCSC Ensembl
chr12:53844998..53844998hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381112
hg191112
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237743, nssv17248847
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)nsv5725896
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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