A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285492



Internal ID22296309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59779014..59779071hg38UCSC Ensembl
chr18:57446246..57446303hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528287
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285492
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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