A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233217



Internal ID22372697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:81648..115963hg38UCSC Ensembl
Outerchr18:81648..115963hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg381141
hg191141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262372
SamplesHG00512
Known GenesMIR8078, ROCK1P1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233217
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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