A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922044



Internal ID15459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191833786..191834271hg38UCSC Ensembl
chr2:192698512..192698997hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438190
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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