A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506090



Internal ID282845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115146686..115146790hg38UCSC Ensembl
chr12:115584491..115584595hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684634
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506090
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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