A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916294



Internal ID11578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80931875..81022998hg38UCSC Ensembl
chr2:81158999..81250122hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3891124
hg1991124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436677
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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