A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190804



Internal ID22341611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:52260331..52351868hg38UCSC Ensembl
Outerchr4:53126497..53218034hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3891538
hg1991538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272415, nssv14272414, nssv14272416
SamplesNA19238, HG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190804
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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