A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694761



Internal ID21721082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113504751..113504751hg38UCSC Ensembl
chr12:113942556..113942556hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193390
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)nsv5694761
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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