A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17410363



Internal ID22468233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146716195..146716352hg38UCSC Ensembl
chr5:146095758..146095915hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901775
Supporting Variants
Samples
Known GenesPPP2R2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17410363
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003


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