A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423226



Internal ID202248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49837736..49837787hg38UCSC Ensembl
chr12:50231519..50231570hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056920
Samples
Known GenesBCDIN3D, BCDIN3D-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423226
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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