A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282260



Internal ID22272606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:4254519..4282544hg38UCSC Ensembl
Outerchr9:4254519..4282544hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg385343
hg195343
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249009
Supporting Variants
SamplesNA19239
Known GenesGLIS3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282260
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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