A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719013



Internal ID21745334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6358267..6358267hg38UCSC Ensembl
chr12:6467433..6467433hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38648
hg19648
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240887
Samples
Known GenesSCNN1A
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)nsv5719013
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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