A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237380



Internal ID22373862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:79479976..79490912hg38UCSC Ensembl
Outerchr17:77476058..77486994hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382115
hg192115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261675, nssv14261674, nssv14261677, nssv14261678, nssv14261676
SamplesNA19239, HG00732, NA19240, HG00733, HG00514
Known GenesRBFOX3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237380
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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