A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv398n206



Internal ID22755702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37145372..37539399hg38UCSC Ensembl
chr5:37145474..37539501hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38394028
hg19394028
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5461288, nsv5468920
Samples
Known GenesC5orf42, NUP155, WDR70
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv398n206
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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