A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378651



Internal ID22436521
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 StatusS
Merged Variantsnsv5927944
Supporting Variants
Samples
Known GenesPHLPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378651
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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