A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262372



Internal ID22119876
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233217
Supporting Variants
SamplesHG00512
Known GenesMIR8078, ROCK1P1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262372
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer