A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181492



Internal ID20748532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5538901..5543000hg38UCSC Ensembl
chr18:5538900..5542999hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6523681
Supporting Variants
Samples
Known GenesEPB41L3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181492
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00099


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