A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706967



Internal ID21733288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61328407..61328407hg38UCSC Ensembl
chr14:61795125..61795125hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230699, nssv17196290
Samples
Known GenesPRKCH
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)nsv5706967
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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