A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441226



Internal ID219707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197664663..197670304hg38UCSC Ensembl
chr2:198529387..198535028hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385642
hg195642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923660
Samples
Known GenesRFTN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441226
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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