A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243456



Internal ID22375580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:121130552..121144159hg38UCSC Ensembl
Outerchr11:121001261..121014868hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381248
hg191248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255670
SamplesNA19240
Known GenesTECTA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243456
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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