A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219454



Internal ID22364473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:59728500..59786375hg38UCSC Ensembl
Outerchr8:60641059..60698934hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3857876
hg1957876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9192n152
Supporting Variantsnssv14280958, nssv14280957, nssv14280959
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219454
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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