A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219290



Internal ID22364355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53156581..53194816hg38UCSC Ensembl
Outerchr19:53659834..53698069hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3838236
hg1938236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263539, nssv14263534, nssv14263542, nssv14263538, nssv14263541, nssv14263537, nssv14263535, nssv14263536, nssv14263540
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesZNF347, ZNF665
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219290
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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