A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530045



Internal ID22399436
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283299
SamplesNA19240
Known GenesTRAPPC8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3530045
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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