A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204473



Internal ID22353316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:136115512..136264873hg38UCSC Ensembl
Outerchr4:137036667..137186028hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38149362
hg19149362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6859n152
Supporting Variantsnssv14272751, nssv14272753, nssv14272752
SamplesHG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204473
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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