A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927783



Internal ID19235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197949749..197950129hg38UCSC Ensembl
chr2:198814473..198814853hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445381
Supporting Variants
Samples
Known GenesPLCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927783
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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