A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281358



Internal ID22186345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:67309151..67359854hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg383544
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234851
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281358
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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