A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192954



Internal ID22343468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:59419134..59442424hg38UCSC Ensembl
Outerchr4:60284852..60308142hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3823291
hg1923291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275029, nssv14275030
SamplesHG00512, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192954
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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