A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6520491



Internal ID20893852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23480984..23482414hg38UCSC Ensembl
chr18:21060948..21062378hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381431
hg191431
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18190035
Samples
Known GenesRIOK3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6520491
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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