A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933027



Internal ID22708334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46194760..46198815hg38UCSC Ensembl
chr18:43774726..43778781hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384056
hg194056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384609
Samples
Known GenesC18orf25
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933027
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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