A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246268



Internal ID22376365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:9557749..9613795hg38UCSC Ensembl
Outerchr18:9557747..9613793hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg381604
hg191604
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262323, nssv14262324, nssv14261817
SamplesNA19238, HG00732, HG00733
Known GenesPPP4R1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246268
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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