A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679201



Internal ID21705522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230334331..230334331hg38UCSC Ensembl
chr1:230470077..230470077hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191679, nssv17204876
Samples
Known GenesPGBD5
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)nsv5679201
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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