A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244820



Internal ID22375963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:122979037..122992003hg38UCSC Ensembl
Outerchr11:122849745..122862711hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg381044
hg191044
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254188, nssv14254189, nssv14254192, nssv14254191, nssv14254190, nssv14254193, nssv14254194, nssv14254196, nssv14254195
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesBSX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244820
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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