A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501394



Internal ID278293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105923926..105928285hg38UCSC Ensembl
chr12:106317704..106322063hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg384360
hg194360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690596
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501394
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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