A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249543



Internal ID22377301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:78759080..78775619hg38UCSC Ensembl
Outerchr11:78470125..78486664hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg381566
hg191566
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255711
SamplesHG00512
Known GenesTENM4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249543
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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