A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453418



Internal ID231540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171558804..171609180hg38UCSC Ensembl
chr2:172415314..172465690hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3850377
hg1950377
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926855
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453418
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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