A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402911



Internal ID22460781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28510132..28548012hg38UCSC Ensembl
chr2:28732999..28770879hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3837881
hg1937881
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885269
Supporting Variants
Samples
Known GenesPLB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402911
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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