A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946359



Internal ID22721848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46193346..46195632hg38UCSC Ensembl
chr18:43773312..43775598hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg382287
hg192287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370087
Samples
Known GenesC18orf25
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946359
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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