A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238089



Internal ID22374054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37264393..37291840hg38UCSC Ensembl
Outerchr18:34844356..34871803hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38822
hg19822
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261894, nssv14261892, nssv14261895, nssv14261893, nssv14261891
SamplesHG00512, NA19238, NA19239, HG00732, HG00513
Known GenesCELF4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238089
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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