A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725483



Internal ID21751804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79612630..79612630hg38UCSC Ensembl
chr12:80006410..80006410hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246503, nssv17252985
Samples
Known GenesPAWR
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)nsv5725483
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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