A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261893



Internal ID22200871
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238089
Supporting Variants
SamplesHG00732
Known GenesCELF4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261893
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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