A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283359



Internal ID22277771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34790342..34790550hg38UCSC Ensembl
chr18:32370306..32370514hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227149
Supporting Variants
SamplesNA19239
Known GenesDTNA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283359
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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