A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445250



Internal ID223606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205958240..205984298hg38UCSC Ensembl
chr2:206822964..206849022hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3826059
hg1926059
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922958
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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