A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217009



Internal ID22362814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:61068921..61107298hg38UCSC Ensembl
Outerchr11:60836393..60874770hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3838378
hg1938378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253342, nssv14253345, nssv14253343, nssv14253347, nssv14253341, nssv14253344, nssv14253346
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesCD5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217009
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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