A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261817



Internal ID22256962
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246268
Supporting Variants
SamplesNA19238
Known GenesPPP4R1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261817
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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