A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695343



Internal ID21721664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124662584..124662584hg38UCSC Ensembl
chr12:125147130..125147130hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193743, nssv17218015
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)nsv5695343
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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