A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14284176



Internal ID22271300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49758001..49761100hg38UCSC Ensembl
chr18:47284371..47287470hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211003
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14284176
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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