A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689262



Internal ID112928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76101277..76101332hg38UCSC Ensembl
chr12:76495057..76495112hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143781
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689262
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003599


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