A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247231



Internal ID22376654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:9580583..9611007hg38UCSC Ensembl
Outerchr18:9580581..9611005hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg382883
hg192883
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262730, nssv14262728, nssv14262729, nssv14262731
SamplesNA19239, HG00732, NA19240, HG00733
Known GenesPPP4R1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247231
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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