A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223505



Internal ID22367253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:93413475..93435776hg38UCSC Ensembl
Outerchr11:93146641..93168942hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3822302
hg1922302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253597, nssv14253598, nssv14253590, nssv14253591, nssv14253594, nssv14253592, nssv14253593, nssv14253596, nssv14253595
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCCDC67
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223505
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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