A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502306



Internal ID279178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110955832..110956302hg38UCSC Ensembl
chr12:111393636..111394106hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684466
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502306
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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