A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287207



Internal ID22131839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76098396..76098470hg38UCSC Ensembl
chr18:73810351..73810425hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527620
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287207
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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