A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056918



Internal ID105784
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 StatusS
Merged Variantsnsv5505846
Supporting Variants
Samples
Known GenesBCDIN3D, BCDIN3D-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056918
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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