A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923337



Internal ID16325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:193439808..193658710hg38UCSC Ensembl
chr2:194304533..194523434hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38218903
hg19218902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441131
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923337
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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