A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512328



Internal ID288883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46677223..46677377hg38UCSC Ensembl
chr12:47071006..47071160hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056747
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512328
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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