A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510504



Internal ID287118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92127683..92127758hg38UCSC Ensembl
chr12:92521459..92521534hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684086
Samples
Known GenesC12orf79
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510504
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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