A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192843



Internal ID22343374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183730363..183771198hg38UCSC Ensembl
Outerchr4:184651516..184692351hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3840836
hg1940836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272868, nssv14272869
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192843
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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