A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281392



Internal ID22270794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:101492729..101507582hg38UCSC Ensembl
Outerchr9:104255011..104269864hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg381578
hg191578
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233902
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281392
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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