A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205285



Internal ID22354001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:144358126..144419281hg38UCSC Ensembl
Outerchr4:145279278..145340433hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3861156
hg1961156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274432, nssv14274436, nssv14274433, nssv14274435, nssv14274437, nssv14274434
SamplesNA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205285
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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