A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437667



Internal ID216251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223897447..223898521hg38UCSC Ensembl
chr2:224762164..224763238hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg381075
hg191075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923970
Samples
Known GenesWDFY1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437667
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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