A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276916



Internal ID22154061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:157746815..157805808hg38UCSC Ensembl
Outerchr5:157173823..157232816hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382889
hg192889
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229325
Supporting Variants
SamplesHG00514
Known GenesCLINT1, LSM11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276916
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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