A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506536



Internal ID283282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92944385..92952929hg38UCSC Ensembl
chr12:93338161..93346705hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg388545
hg198545
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690034
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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