A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239598



Internal ID22374462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68420136..68446767hg38UCSC Ensembl
Outerchr11:68187604..68214235hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38878
hg19878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255057, nssv14255060, nssv14255059, nssv14255058, nssv14255056
SamplesNA19238, NA19239, HG00731, HG00732, HG00513
Known GenesLRP5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239598
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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