A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707500



Internal ID21733821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93106218..93106218hg38UCSC Ensembl
chr14:93572563..93572563hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213431
Samples
Known GenesITPK1
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)nsv5707500
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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