A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18040359



Internal ID20607399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23133901..23136500hg38UCSC Ensembl
chr18:20713865..20716464hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6533347
Supporting Variants
Samples
Known GenesCABLES1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18040359
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.01595


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