A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210460



Internal ID22358356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12579033..12617357hg38UCSC Ensembl
Outerchr19:12689847..12728171hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3838325
hg1938325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4139n152
Supporting Variantsnssv14263583, nssv14263584, nssv14263588, nssv14263585, nssv14263587, nssv14263586
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesZNF490, ZNF791
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210460
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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