A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18088122



Internal ID20655162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28572427..28573211hg38UCSC Ensembl
chr2:28795294..28796078hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38785
hg19785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6340064
Supporting Variants
Samples
Known GenesPLB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18088122
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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