A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445465



Internal ID223812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240030023..240046047hg38UCSC Ensembl
chr2:240969440..240985464hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3816025
hg1916025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925255
Samples
Known GenesOR6B2, OR6B3, PRR21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445465
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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