A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196579



Internal ID22346563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:709593..748611hg38UCSC Ensembl
Outerchr4:703382..742399hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3839019
hg1939018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272270, nssv14272272, nssv14272271
SamplesHG00512, NA19238, HG00514
Known GenesPCGF3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196579
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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