A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505846



Internal ID282610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49835267..49837381hg38UCSC Ensembl
chr12:50229050..50231164hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382115
hg192115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056918
Samples
Known GenesBCDIN3D, BCDIN3D-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505846
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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