A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240738



Internal ID22374776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:3069642..3104600hg38UCSC Ensembl
Outerchr11:3090872..3125830hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381175
hg191175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254289, nssv14254293, nssv14254290, nssv14254291, nssv14254288, nssv14254292
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00514
Known GenesOSBPL5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240738
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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