A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14284146



Internal ID22136533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49440047..49441144hg38UCSC Ensembl
chr18:46966417..46967514hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381098
hg191098
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528342
Supporting Variants
SamplesHG00513
Known GenesDYM
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14284146
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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