A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199438



Internal ID22349022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:45207645..45217449hg38UCSC Ensembl
Outerchr4:45209662..45219466hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg389805
hg199805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272393
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199438
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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