A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200468



Internal ID22349913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:134811155..134945925hg38UCSC Ensembl
Outerchr4:135732310..135867080hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38134771
hg19134771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272774
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200468
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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