A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201902



Internal ID22351141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:49083235..49161472hg38UCSC Ensembl
Outerchr4:49085252..49163489hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3878238
hg1978238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6583n152
Supporting Variantsnssv14272400, nssv14272404, nssv14272398, nssv14272402, nssv14272403, nssv14272399, nssv14274497, nssv14272401
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201902
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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