A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281568



Internal ID22135093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18790535..18813298hg38UCSC Ensembl
Outerchr8:18648045..18670808hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3822764
hg1922764
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210824
Supporting Variants
SamplesHG00513
Known GenesPSD3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281568
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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