A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236295



Internal ID22373541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1488904..1514009hg38UCSC Ensembl
Outerchr11:1510134..1535239hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381717
hg191717
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253992, nssv14253990, nssv14253991
SamplesNA19239, NA19240, HG00513
Known GenesMOB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236295
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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