A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194658



Internal ID20761698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89709501..89713100hg38UCSC Ensembl
chr12:90103278..90106877hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457293
Supporting Variants
Samples
Known GenesLINC00936
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194658
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00125


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