A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527546



Internal ID22396933
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289944, nssv14289945, nssv14289946, nssv14289947
SamplesHG00512, NA19238, HG00513, HG00514
Known GenesRAB31
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527546
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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