A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254463



Internal ID22131052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:5255613..5315858hg38UCSC Ensembl
Outerchr11:5276843..5337088hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3860246
hg1960246
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228759
Supporting Variants
SamplesHG00513
Known GenesHBE1, OR51B4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254463
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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