A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201642



Internal ID22350913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:40633687..40635776hg38UCSC Ensembl
Outerchr4:40635704..40637793hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382090
hg192090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6562n152
Supporting Variantsnssv14274372
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201642
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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