A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6533191



Internal ID20906552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45843821..45854639hg38UCSC Ensembl
chr18:43423786..43434604hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3810819
hg1910819
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195285
Samples
Known GenesEPG5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6533191
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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