A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281480



Internal ID22254683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:111696855..111756535hg38UCSC Ensembl
Outerchr8:112709084..112768764hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3859681
hg1959681
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227299
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281480
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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