A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726311



Internal ID21752632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12576238..12576238hg38UCSC Ensembl
chr12:12729172..12729172hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381308
hg191308
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237685
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)nsv5726311
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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