A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262729



Internal ID22223039
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247231
Supporting Variants
SamplesHG00733
Known GenesPPP4R1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262729
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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