A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249009



Internal ID22377153
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282259, nssv14282261, nssv14282260
SamplesNA19238, NA19239, NA19240
Known GenesGLIS3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249009
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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