A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502350



Internal ID279219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122063429..122063542hg38UCSC Ensembl
chr12:122501335..122501448hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685065
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502350
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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