A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283563



Internal ID22132863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:89661809..89687954hg38UCSC Ensembl
Outerchr9:92276724..92302869hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg38909
hg19909
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239216
Supporting Variants
SamplesHG00513
Known GenesUNQ6494
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283563
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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