A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253363



Internal ID22328899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:66935429..66951268hg38UCSC Ensembl
Outerchr11:66702900..66718739hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3815840
hg1915840
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217595
Supporting Variants
SamplesNA19240
Known GenesPC
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253363
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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