A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194814



Internal ID22345081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:60140466..60187741hg38UCSC Ensembl
Outerchr5:59436293..59483568hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3847276
hg1947276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273603
SamplesHG00513
Known GenesPDE4D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194814
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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