A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254415



Internal ID22294453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47736422..47758044hg38UCSC Ensembl
Outerchr11:47757974..47779596hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3821623
hg1921623
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220402
Supporting Variants
SamplesNA19240
Known GenesFNBP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254415
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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