A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911653



Internal ID8537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43189066..43191655hg38UCSC Ensembl
chr2:43416205..43418794hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382590
hg192590
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435140
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911653
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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