A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512804



Internal ID289350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107880635..107885724hg38UCSC Ensembl
chr12:108274412..108279501hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg385090
hg195090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684279
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512804
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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