A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14284083



Internal ID22131593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48389190..48389482hg38UCSC Ensembl
chr18:45915561..45915853hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215068
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14284083
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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