A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219865



Internal ID22364744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47017966..47056195hg38UCSC Ensembl
Outerchr11:47039517..47077746hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3838230
hg1938230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253317, nssv14253313, nssv14253314, nssv14253318, nssv14253315, nssv14253316
SamplesHG00512, NA19238, HG00731, HG00733, HG00513, HG00514
Known GenesC11orf49
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219865
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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