A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705654



Internal ID21731975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25303015..25303015hg38UCSC Ensembl
chr12:25455949..25455949hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17192122, nssv17223602
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5705654
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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