A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688627



Internal ID112293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64589253..64589844hg38UCSC Ensembl
chr12:64983033..64983624hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38592
hg19592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496685
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688627
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00562


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