A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236071



Internal ID22373474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:60031511..60061239hg38UCSC Ensembl
Outerchr11:59798984..59828712hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg384086
hg194086
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254946, nssv14254947, nssv14254945, nssv14254944
SamplesHG00731, HG00732, HG00733, HG00514
Known GenesMS4A3, OOSP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236071
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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