A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248530



Internal ID22377015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1503758..1541923hg38UCSC Ensembl
Outerchr11:1524988..1563153hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg386379
hg196379
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254255, nssv14254256, nssv14254254, nssv14254257, nssv14254258, nssv14254253
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesMOB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248530
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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