A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249773



Internal ID22377368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:101353096..101361810hg38UCSC Ensembl
Outerchr9:104115378..104124092hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg389608
hg199608
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281388, nssv14281389
SamplesNA19239, HG00732
Known GenesBAAT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249773
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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