A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058831



Internal ID107079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58780705..58832080hg38UCSC Ensembl
chr12:59174487..59225862hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3851376
hg1951376
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499474
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058831
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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