A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446839



Internal ID225157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202290706..202290758hg38UCSC Ensembl
chr2:203155429..203155481hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922899
Samples
Known GenesNOP58
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446839
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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