A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256545



Internal ID22207526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:68809166..68838649hg38UCSC Ensembl
Outerchr13:69383298..69412781hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3829484
hg1929484
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210514
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256545
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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