A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528842



Internal ID22398234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56136160..56185976hg38UCSC Ensembl
chr8:57048719..57098535hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3849817
hg1949817
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14343272
SamplesHG00732
Known GenesPLAG1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528842
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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