A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289947



Internal ID22263821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9809071..9809266hg38UCSC Ensembl
chr18:9809068..9809263hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527546
Supporting Variants
SamplesNA19238
Known GenesRAB31
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289947
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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