A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927779



Internal ID19232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197923309..197932000hg38UCSC Ensembl
chr2:198788033..198796724hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg388692
hg198692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447851
Supporting Variants
Samples
Known GenesPLCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927779
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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