A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511898



Internal ID288466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125022823..125055927hg38UCSC Ensembl
chr12:125507369..125540473hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3833105
hg1933105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685134
Samples
Known GenesBRI3BP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511898
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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