A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283612



Internal ID22137267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:104491727..104499416hg38UCSC Ensembl
Outerchr9:107254008..107261697hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38859
hg19859
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237061
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283612
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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