A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203473



Internal ID22352479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6893733..6961216hg38UCSC Ensembl
Outerchr4:6895460..6962943hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3867484
hg1967484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272304, nssv14272306, nssv14272301, nssv14272303, nssv14272305, nssv14272302
SamplesNA19238, NA19239, HG00731, HG00732, HG00733, HG00514
Known GenesTBC1D14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203473
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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