A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216592



Internal ID22362539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:9144777..9156816hg38UCSC Ensembl
Outerchr8:9002287..9014326hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281078
SamplesHG00732
Known GenesPPP1R3B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216592
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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