A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706434



Internal ID21732755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62905978..62905978hg38UCSC Ensembl
chr18:60573211..60573211hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17215907, nssv17201190
Samples
Known GenesPHLPP1
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)nsv5706434
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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