A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496030



Internal ID273119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114241932..114242187hg38UCSC Ensembl
chr12:114679737..114679992hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690723
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496030
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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