A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246063



Internal ID22376312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:130876132..130896814hg38UCSC Ensembl
Outerchr11:130746027..130766709hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254753
SamplesNA19239
Known GenesSNX19
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246063
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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