A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463199



Internal ID241109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111123177..111123307hg38UCSC Ensembl
chr5:110458875..110459005hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973660
Samples
Known GenesWDR36
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463199
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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