A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18197168



Internal ID20764208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:72541501..72543000hg38UCSC Ensembl
chr18:70208736..70210235hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6521072
Supporting Variants
Samples
Known GenesCBLN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18197168
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00036


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