A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283640



Internal ID22290689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:111769937..111800811hg38UCSC Ensembl
Outerchr9:114532217..114563091hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg384494
hg194494
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230626
Supporting Variants
SamplesNA19240
Known GenesC9orf84
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283640
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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