A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927944



Internal ID22703177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62796592..62805112hg38UCSC Ensembl
chr18:60463825..60472345hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg388521
hg198521
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378651
Samples
Known GenesPHLPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5927944
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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