A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261460



Internal ID22274317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:79479976..79487123hg38UCSC Ensembl
Outerchr17:77476058..77483205hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381053
hg191053
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241381
Supporting Variants
SamplesNA19239
Known GenesRBFOX3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261460
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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