A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283299



Internal ID22288385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31940584..31940910hg38UCSC Ensembl
chr18:29520547..29520873hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3530045
Supporting Variants
SamplesNA19240
Known GenesTRAPPC8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283299
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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