A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704607



Internal ID21730928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76828691..76828691hg38UCSC Ensembl
chr14:77295034..77295034hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17196912, nssv17224082
Samples
Known GenesC14orf166B
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)nsv5704607
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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