A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222827



Internal ID22366780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:28940188..29004044hg38UCSC Ensembl
Outerchr11:28961735..29025591hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg3863857
hg1963857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253305, nssv14253303, nssv14253301, nssv14253299, nssv14253304, nssv14253306, nssv14253300, nssv14253302
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222827
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer