A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701763



Internal ID21728084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70215870..70215870hg38UCSC Ensembl
chr14:70682587..70682587hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17195848
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)nsv5701763
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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