A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506123



Internal ID282878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4878507..4919482hg38UCSC Ensembl
chr12:4987673..5028648hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3840976
hg1940976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052766
Samples
Known GenesKCNA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506123
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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